Chromosome Abnormalities
Q&A about defects in the number or structure of human chromosomes, whether inherited (from a parent) or sporadic (occurring by chance, or de novo). Examples include trisomy 21 (Down syndrome) and Cri du Chat (deletion of a small piece of the short arm of chromosome 5).
People who work in genetics and the medical field usually refer to chromosome diseases or chromosome disorders as chromosome abnormalities or chromosomal abnormalities. Chromosomes are located in the center of our cells. Each chromosome contains thousands of genes. When a person has an extra chromosome (called trisomy), or a chromosome missing, or the structure of the chromosomes is different than usual, health problems may occur. Some examples include trisomy 21 (also known as Down syndrome, or Down’s syndrome) and trisomy 18. Examples of structural chromosome abnormalities include balanced translocations, unbalanced translocations, chromosome deletions, inversions, and duplications.
Other information about chromosome problems:
Unique – Rare Chromosome Disorder Support Group
http://www.rarechromo.org
Chromosome Disorder Outreach
http://www.chromodisorder.org
-Genetics Education Center, University of Kansas
http://www.kumc.edu/gec/support/chromoso.html
Subtopics
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Can you advise how one can go about finding out what genes are missing on someone with a chromosomal deletion? My grandson was born with 4q deletion, term at 31.3. I'm thinking if we can find out what he's missing out on, we might be able to support that lack with whatever we can, be it nutrition, exercise, counseling, etc... Is this information that is known? Is it good to do further testing?
Sorry, but I didn't see such a question in all your wonderful information and wasn't sure how else to pose a question.
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Hi, my husband and I have had two failed IVF/ICSI attempts. He has Heterozygous pericentric inversion on chromosome one inv 1(p36.13;q25.3), seemingly balanced normal heterochromatin with a 4x increase in length (NO phenotypical abnormalities). Please can you tell us whether this means it is impossible to have a biological child and (if possible) what tests can be done to identify abnormal from normal sperm (as done in FISH tests) so that a pregnancy can be achieved. Inversion one is associated with fetal loss, infertility, severe azoospermia and recurrent miscarriages, as well as leukemia. Should I even consider having a biological child? Please help. View Answer |
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My son has deletion 15q 13.2-13.3. Are there any physical characteristics associated with this abnormality? Also, do you know how many documented cases there are of this specific chromosome abnormality? View Answer |
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2009-11-11 |
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I am reading a pediatric textbook, and came across the following: 46N inv(3)(p14:q21)
My question is, how am I to state this in full?
This is what I hypothesize it should mean; inversion on chromosome 3 of the segment that runs from the short arm band 14 to the long arm band 21.
And what does that N mean? Am I even correct in what I think it means? How about that colon, what is that short for?
So basically, how should this be written out in without abbreviations? View Answer |
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2009-10-15 |
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My Family has a genetic disease that is called Cre-du-chat and I was wondering what would be the best way to test to see if I am a carry of it? View Answer |
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2009-09-22 |
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What type of problems would an extra "piece" on the 21st chromosone cause? (Both mother and child have it) View Answer |
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2009-09-19 |
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My maternal grandfather had 2 sisters that each had a child with down syndrome. I believe that they were both under the age of 35 with their pregnancies. My grandfather had 6 healthy children of his own and each sister also had other healthy children. My mother had 2 children (both of us are healthy, although my brother has had issues w/ infertility--but conceived w/ help of IVF) and she has no history of miscarriage. I have one healthy daughter and no history of miscarriage.
Seems like more than a coincidence that 2 sisters would both have a child with down syndrome. I am unaware if either sister or the individuals with down syndrome have or had been karyotyped in the past.
What do you think is the likelihood that this was the result of translocation or some other possible genetic link? Should I be concerned about my risk for conceiving a child with down syndrome myself and should I pursue karyotyping?
thank you for your time. View Answer |
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2009-09-15 |
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my son was diagnosed at the age of 4 years with Ring Chromosome 5 mosicism. He is very small for his age and is behind in school he is now 9 years. I was told that he should not have children when he gets older. He has to sisters and as far as we know they have normal chromosomes should they worry about having kids? How many more kids do you know of that have this? I am scarred of the risks of tumors. His genetic dr has moved away and the other one he has seen dont know what to tell me about his condition. Anything you could tell me would be helpful. Thank you very much. View Answer |
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2009-09-10 |
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I am wondering, in a family case where a son has DS but his older sister is fine because she has kept busy with sports all her life, can syndromes develope later in her life. As in personality/mood/ disorders? Is there a history in the family of other developmental problems with either the parenta as a carrier or the other children they have? Are the other children more likley to have other disorder? View Answer |
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2009-09-03 |
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I just found out my 3 mo old God Daughter is missing Chromosome 14 and 6 genetic genes. Her forehead is in the shape of a triangle and she is about to undergo surgery to reform her skull and and give her a soft spot so her brain may form correctly. They have rescheduled her surgery to an earlier date cause her headaches and migraines are getting much worse as the days go by. Can you help me to understand how she may grow missing this Chromosome? I have done some reearch myself but we have not meet with a geneticist yet to decuss her growing. Can you please help me? View Answer |
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2009-08-27 |
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3 miscarriages, 1 confirmed down syndrome (lost baby at 6mo) and 2 living children.
2 year old's amnio came back fine. My 8mo old came back as the following, just need some clarification, can't get anyone to explain...
22 of 23 colonies examined show a normal femal chromosome complement. However, only colony shows partial duplication of the long arm of chromosome 11, and whole arm delition of short of of the chromosome 20. Not able to do work up to determine if true mosaicism for these abnormalities exist. Moderate work up needs 12 colonies from primary coltures and in this case 10 other colonies were available for examination.
Could you give me your take on this result? View Answer |
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2009-08-24 |
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i am the parent of a 25 yr. old male who was born w/ a deletion of the #2 chromosome, deleted g-band. I believe on upper arm. We stopped going for genetic counseling years ago. I was looking for any information about this. When we stopped going to the genetic defect center there was no other cases like my son's. At the time there were 5 reported cases and each one had a different part of the chromsome missing. Although my son was diagnosed there was no prognosis, they said unknown. Is there any new information? I appreciate any information you can provide me. Thank you. View Answer |
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2009-08-23 |
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my daughter have partial trisomy of chromosome 18 she is5 yars end 8 month older.I whant to know please,what hapend in the future with her.She look like normal chaild, but she have heart murmur, flat feet, hearing problems, porr vision she wears glasses end also dificulty speech.The pshiolog say my daughter is much younger than her age.PLEASE GIVE MY ON ANSWER! THANK YOU VERY MUCH! View Answer |
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2009-08-15 |
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My first child passed away 2 days after birth. Doctors presumed Patau syndrome but the blood test didn't show any chromosome defect. And there were no anomalies during the pregnancy (passed AFP, ultrasonographic measurement, etc). Perhaps it was mosaic Patau?
Some symptome: atelectasia partial neonatorum, ductus arteriosus botalli persistens, pitvari sectum defectus, palatoschisis, thymus persistens polydactylia, vitium cordis congenitum (asd et psd), aplasio cutis in regio capitis)
My wife is pregnent again. My Qs are the followings:
If it was a mosaic Patau should the blood test proof it, or not?
I read somewhere that maybe one of the parents have this defect without any sign but in this case it is inheritable. Is there any test which can check this defect?
We are in the first-trimester and we passed multiple-marker test. (PAPP-A 1942 iu/l, 0,64 mom; free b-hCG 30,0 iu/l, 0,72 mom). Is there any test what you advice to do in order to decrease the risk?
Thank you! View Answer |
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2009-08-13 |
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My son is 25 years old today. He had 3 genetic work-ups through the years at Texas Childrens Hospital in Houston, Tx. The geneticist said he had a syndrome that did not have a name. That number 8 chromosome was longated and he is mildly mentally retarded, & has had many different physical problems through the years. Could you please let me know if there is a name to this syndrome now, so I can do a study on it to find out more about what to expect for my son's future. Thanks so much. View Answer |
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2009-08-10 |
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Hello
First off I am a proud parent of a beautiful son with Down's Syndrome. I was curious to know where I could go to be tested including my husband to see the possibilty of having another child with downs. I feel that if we were meant to have children with downs then that's ok. Regardless my son's condition or feature kids could have we will live the
the same and treat the no different than any other child. Also is it possible that my son can have kids when he gets older. He's going on 2 in August. He's still young and I shouldn't think about that now but just wanted to know. Also I am 28 years old and my husband is 27. None of our families have downs syndrome. Not his side or mine. Please respond back thank u for your time. View Answer |
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2009-07-01 |
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My 32 year old daughter just lost her son on May 22nd. We just found out yesterday that he had ?Turner?s Syndrome?. This was her third pregnancy, emergency C-section following a biophysical ultra sound in which the OB said ?I don?t like what I see?. (36 weeks, 5 days). Baby opened his eyes on delivery, when they cut the cord, he was gone. (Following autopsy, determined he had enlarged liver, spleen and ?rigid? heart tissue). After several ultra sounds, and a lung ?test? that said his lungs were mature, and he could be delivered early if need be, baby weighed 9 ? lbs., we do not understand why these abnormalities were not picked up by ultra sound. We are, needless to say, devastated. Totally out of the blue. Two questions, if you can help??1. Does ultra sound have the ability to pick up Turners/Noonan?s syndrome (this evidently happened at the start of the pregnancy). 2. What about any future pregnancies??.will she always have to worry about this syndrome with her children or is this just something that happened during cell division?
She has an appointment with a perinatologist next week, and we are certain genetic counseling will be requested, but thought you might help with these two questions. It is so sad to think that she may not be able to have another child.
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2009-06-24 |
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My 14 month old daughter has an interstitial monosomy deletion on chromosome 11 at 118,670,245-122,343,708 (3.7 Mb). She has these intention tremors, which can occur several times a day - mostly whenever she is trying to bring something to her mouth or when she gets really excited. The tremor manifests itself by shaking hands, side-to-side oscillating head movements and occasional pulling of the mouth to the one side. She's had two EEGs and a MRI of the brain and all came back normal and she doesn't appear to have any metabolic issues. Neither her neurologist nor geneticist have been able to determine the cause of the tremors. Would you be able to determine, based on the location of the deletion, if any of her missing genes might be the cause of her tremors? The GRIK4 gene seems to stand out to me with glutamate being a major excitatory neurotransmitter. Is there any type of blood test that we can try to determine her level of glutamate? View Answer |
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2009-05-17 |
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A women thay carries a pericentric inversion on chromosome 5, was told by the dr. that at the time of conception she faces a 50% that the fetus inherits an unbalanced recombinant chromosome5. i would like to know what is the chance that she will carry a viable pregnacy with a genetic abnormality including cri du chat? also to what % can pgd detect this abnormality? I as their rabbi am faced with the question of abortion View Answer |
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2009-05-10 |
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I have a daughter that was born in 2002 with a p 8 deletion. They say 46, xx, del (8) (?p11.2?P21.1). ish 22Q11.2 (Tuple 1x2) [20] can you give me any information on this when she was born they said that it was rare and we have not seen the genetics dept. since 2003 at the University of Michigan Hospital. They told me that she would not live past the age of 2 and we will be 7 here in a couple days. There was TOF, imperferate anus, and other issues. Just looking for more information and maybe input on what else to maybe expect. Thank you for your time.
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2009-05-05 |
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I was just told my child has a duplication of chromosome 13. What does that mean. He has an identical twin who's results are normal. Is that even possible? View Answer |
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2009-04-30 |
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I was diagnosed at 13 with circle chromosome Syndrome now at 44 I would like to understand this better does it affect my weight , and what kind of hormone therapies I should be looking at. My doctors do not know anything about it and are not keen on researching this.
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2009-04-20 |
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We were told that my daughter has a duplication in chromosome 7. She also has autism. How is this related and what does it mean for her? View Answer |
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2009-04-13 |
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My husband and I are interested in adoption and have been referred a child with a 13 deletion at the 32nd band. This is all new ground for us. Can you explain what that means and possible special needs for this child? Thanks! View Answer |
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2009-04-11 |
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My 3-year old grandson has a partial deletion of chromosome 11q14.1-11q14.3. He also has an extra copy of chromosome 22q11.21. Can you tell me what we should expect as far as his development? Apparently, no doctor has been able to explain this to us. View Answer |
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2009-04-07 |
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27 years ago I gave birth to my daughter. She was sick all the time so they finally did a skin test? and I was told my daughter was born with an extra male chromosone and that she may be behind mentally a few years up until the age of about 12. I never was educated on what this exactly meant. My daughter looks 27 and could do mostly everything anyone else could, but still things don't add up. Could you tell me the name of the disorder my daughter has? I was given no fancy name or number. Just that she was born with an extra male chromosone. View Answer |
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2009-04-02 |
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I am the mother to a 1 1/2 month old little girl with 46xx del(2)(q36). I have tried to research this disorder with no luck. She has not seen a genetic doctor yet. I am in the process of finishing her paperwork for an appointment but would like to know what kind of effects this disorder will have on her. I want a heads up of what me and my husband maybe facing. View Answer |
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2009-03-30 |
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My husband got back his FISH test results. At first we were told he probably has a translocation between his 14 and 22. After looking at the results (ish inv(22)(D14Z1/D22Z1+, TUPLE 1+) Ananlysis was performed using a probe specific for the centromere regions of Chromo. 14 and 22 adn a probe containing the TUPLE 1 gene in Chromosome 22q11.2. This analysis shows the abnormal chromo 22 is monocentric and the location of the TUPLE 1 gene on the long arm has moved relative to the centromere. These findings indidcate a possible pericentric inversion involving the short arm NOR region and the proximal long arm of chromo 22
What does that mean? We are trying to get pregnant...but will even IVF w/PGD work? View Answer |
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2009-03-24 |
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I had delivered a trisomy 18 baby girl after 42 weeks pregnancy (although there is no history in my family or my husband's family), she was born dead on September 27, 2008....i am now 10 weeks pregnant , when & what is the test i should do to know the baby health? what is the percentage of having another trisomy 18 baby? Thank you in advance for your cooperation
P.S. i didn't do any genetics test after my previous deliver View Answer |
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2009-03-15 |
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Can you please tell me what chromosome 11 inversion 21-23 is? My 4 year old son was diagnosed with this when I was about 20 weeks pregnant with him. None of the doctors that I have talked to were able to give me any answers. I am pregnant again and my daughter was also diagnosed with this. Thank you for any information that you can provide. View Answer |
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2009-03-10 |
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Hi,
I am 40 years old and the mother of a healthy baby who was born over a year ago. My husband and I are planning for a second child. I am aware of the high risk group I belong to due to my age and the possibility of Downs syndrome. I recently discovered that there are 2 cases of downs syndrome in my family. I have read that one can be a carrier of Trisomy 21 type which can be inherited. I would like to undergo tests to check if I am a carrier.
I would appreciate your help in identifying the test that could clear that doubt in my mind and locating a lab that would do this test for me. View Answer |
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2009-03-09 |
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My 3 month old daughter has a chromosome 22 deletion, location 22q11.21-23. Could you give me any information regarding this exact deletion? I am not able to see a geneticist until June.
She was born at 33 weeks (2lbs13oz) with a heart murmur and and umbilical hernia which was at first diagnosed as an omphalocele. She also has large preauricular tags and some mild facial differences along with IUGR. View Answer |
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2009-03-08 |
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My nephew was born on Jan.08. Cri du chat was diagnosed. Father of infant was a balanced translocation carrier. Infant diagnosed as unbalanced translocation. After numerous health conditions resulting from defect, infant passed away on Jul.08. The parent's would like to try again, in time, and the question that I would like to ask is, if there is any chance of isolating a genetic material from the father that would not contain a defective chromosone? We have not researched this as of yet and would like to know if that is even something to be considered? Thank you . Any information you could give would be very helpful. View Answer |
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2009-03-07 |
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I had my daughter tested and her test came back with a duplication on chromosome 9. I was tested and found out I carry this same duplication. I was told that because I am not affected my daughters problems couldn't be because of this. Is this possible? View Answer |
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2009-03-04 |
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My 11 year old nephew has had a chromosomal analysis done at the suggestion of his pediatric endocrinologist and the results are
46XY,inversion 9 p12q13 with normal male karyotype. it also says Pericentric inversion . What does this mean exactly? Does he have a genetic disorder? and will he have problems with his reproductive abilities or is he predisposed to other diseases? He's a great kid, pretty normal, precocious, active in sports, great student academically etc... I am concerned for him, because his pediatrician says he has physiologic gynemastia. Please help me understand what's going on? Thank you!! View Answer |
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2009-03-03 |
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Why does Cri du chat syndrome affect girls more than boys? View Answer |
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2009-03-03 |
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HI! On the first days of february we took our 2 and 1/4 years old kid to a neuroligist in miami to chek him because his not speaking. He made some exams hering test,bera and a eeg. Everythibg came out fine he just told us to take him to a therapist because he had a language disorder. But he also made us do a blood exam for genetics. today they send us an inform that he has an abnormalty on the chromose 16 a duplicate. They want us to make the exams also to check. My question is:does the speaking problem can have something to do with this abnormalty of the chromosone? and what other problems can he have with this abnormalty??thanks View Answer |
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2009-02-25 |
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Hi,
Can you tell me if you have learned any more about extra material on the 5th chromosome? I posted about a year ago regarding my 9 year old daughter, and I was just curious if there is any new research, studies, etc. Also, could you tell me approx how many in your database have extra material on chromosome 5? Is it somewhat common? My daughter's doctors still cannot "put their finger" on what exactly my daughter has....they are now saying it could be related to her chromosome abnormality.
thanks! View Answer |
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2009-02-20 |
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My 3 year old niece was just diagnosed today with Partial Trisomy 13. After doing an internet search i've only come up with information about full Trisomy 13. Can you please give me some information about Partial Trisomy 13? How can I as her aunt help support her through this? View Answer |
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2009-02-19 |
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I am 26 wks pregnant and the results of an amnio showed that the baby is missing 7p36.1, through 36.3/4 (I cannot remember which). I want to know what this means for my little girls life. How will she function? What is expected from her physical appearences? View Answer |
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2009-02-15 |
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Hi, my daughter had an abnormal aCGH result. I am trying to find information regarding her blood work . She had a partial trisomy on number 2 chromosome. What does (CTD-2652F9->Rp11-47F2)x3 mean. How can I find out what specific genes were duplicated? View Answer |
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2009-02-12 |
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I will be 35 this year, I had a beautiful girl almost 15 years ago with Down Syndrome Trisomy 21. I have no regrets at all I love her to death. I recently got married and we are trying to have a baby, I am afraid and concerned I have heard that because of my age i have a higher risk on having a baby with Down Syndrome again. Should I go under any type of treatment or should i keep on trying to get pregnant and then have the test where they take liquid from the belly button. My husband is 41. I really appreciate your time and answers. thank you. View Answer |
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2009-02-03 |
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I am aware that downs syndrome occurs due to trisomy of the 21st chromosome. However I was wondering why this causes downs syndrome. What is significant about chromosome 21?
Thank you View Answer |
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2009-02-02 |
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I'D LIKE TO KNOW IF MY PREVIOUS ABORTIONS CAN CAUSE A BABY TO BE BORN WITH DOWN SYNDROME. View Answer |
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2009-01-28 |
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hi
I found out the Kareotype: 46xy 9q21.11 to 9q21.13
Deletion on 9th chromosome...
I sent a previous email asking about this...and you answered to see genetic counselor this is the exact kareotype that they were give and where the deletion is.
What symptoms might be present?
Bedwetting have anything to do with Kidney problems?
Behavioral stuff: lying, stealing, and overeating? All problems related to the environment or can these have some genetic predispositions? Also, what about developmental delay, like one might see in high functioning aspergers?
Thank you
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2009-01-24 |
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I am a parent of a 19 year old son with Down's Syndrome, and I would like to know wether or not it is possible for two people with Down's Syndrome to have a Down's baby?. I would also like to know if there is any truth to the fact that some men with Down's Syndrome are infertile? View Answer |
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2009-01-23 |
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Can you please give me information regarding a deletion on chromosome #9?
This young person (teenager) has (creased palm, creased eyelids, and ears that are small and low, and high palate) features similar to downs syndrome, but has normal IQ, also appears to have symptoms that meet DSM-IV criteria of Pervasive Developmental Disorder or aspergers.
Behavioral issues steals, lies, and chronic bedwetting...emotinally immature. View Answer |
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2009-01-21 |
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I had a male child aged 02 yrs and 03 months having percentric inversion of chromosome 9 of p11 q12 and he is having global developmental delay with pierre robin sequence,cant speaking, cant standing independently. kindly suggest me what i has to do ? View Answer |
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2009-01-20 |
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Hello. My daughter is 4-months-old, and at 6 weeks was diagnosed with Ring 9 Syndrome (p24 q34.3). Our geneticist recommended that my husband and I get tested and we have recently gotten our test results back. My husband has an inversion involving the centromere on his 9th chromosome. There is no deleted or duplicated material involved. The geneticist and lab director said they do not believe that this had anything to do with our daughter's Ring 9 due to the differences in the breaks. However, we do have 2 boys as well. They both have "normal" development. Do they need to be tested for this gene variation to see if it can be passed on to future children? View Answer |
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2009-01-13 |
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My brother has a condition known as 7q+ chromosome anamally (q22-q34 are duplicated). There is a report on my brother from 1993 by Dr. Robert Straton in the American Journal of Medical Genetics (47:380-382). I was hoping for some possible clarification on what the 7th chromosome deals with (if there is any info at that at this time) and what it might mean for some one who has my brother's condition. Please provide me with any info you might be able to provide. Thank you View Answer |
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2009-01-09 |
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My grandson has a partial duplication and deletion of the #1 chromosome. He is 2 months old. He is hospitalized at the time. Wet lungs-mucus in nasal passages. Any conditions that may be associated with the chromosome abnormality? Also which chromosome is associated with cystic fibrosis?
Thank you View Answer |
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2009-01-01 |
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I have 5 yr. old monozygotic twin boys. One (twin A) had a cystic hygroma in utero that resolved and currently has three cardiac diagnoses (ASD, abn. aortic valve, cortriatriatum), asthma, and a mild hearing loss. It was determined from a blood sample at birth that he has an inversion on Chromosome 9. Twin B is very healthy with no abnormalities. We just had his chromosome test completed and it is "normal". Are there any current studies that have been done on twins such as mine or are there any that mine would be appropriate for? Thank you. View Answer |
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2008-12-29 |
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my son has 48 chromasomes,he has some learning problems and is getting help at school. he is now 9 but doesn,t seem to be like any ordinary 9 year old. is there any support groups in my area or near abouts as i dont get any support i need from my gp View Answer |
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2008-12-26 |
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Hi,
I wanted to know if you could provide me with a proper description of the karyotype of an individual that has Cri Du Chat syndrome. I could now find it in the entry that was posted.
I am doing a research paper and it would be helpful if I had the background knowledge on the karyotype.
Thanks
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2008-12-18 |
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I submitted a sample from my child to Emory University a few years ago who was identified by UAB as having 6q terminal deletion. She is now 7. I have learned a good bit from the internet and we are managing her ok. She walks,laughs eats soft food without a feeding tube,drinks from a sippy cup and interacts despite occasional seizures but I would still like to know if there are any studies that would indicate she may someday talk and would love to hear from any studies her information has been included in. View Answer |
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2008-12-03 |
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In the posted answer to question on Trisomy 15 dated 2005-09-14 it states "A specific DNA study to look at a gene or genes would need to be done in order to see if a gene has a mutation or not." My question is what is that specific DNA study/studies called? View Answer |
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2008-11-13 |
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I have a 4year daughter that has many illness. When she was dorn I was told she was a health child. 5 months later I found out that was not the case. So far I have been told she has Glaucoma in both eyes. had tear glands clogged, have a cleft palate, entropion, speech delay, was short stature for most of her life until now, Allergies, has behavior issues, and night terrors. Now I'm told that she has a Duplication of a single female chromosome. I have been tested for that, and I don't have it. Now they are just waiting for the father to be tested. What does this mean? What could be the cause of my little girl pain? Thank you. View Answer |
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2008-11-12 |
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My son was diagnosed with 48xxxy syndrome when he was in congestive heart failure at the age of 4 months. he also only has one kidney and one testicle. he has always had horrible skin he is always broken out in rashes and he also sufferes from eczema,asthma and numerous food allergies.. his geneticist thinks he may have ichthyosis and or ectodermal dysplasia.the xxxy unlike some his teeth are normal but my son cannot sweat and he is constantly getting MRSA on his skin. i have a referral into see a rheumatoligst at scottish rites hospital in dallas but my question is his immune system has always been messed up. I adopted him at age 6 months and am wondering I have Lupus and what are the chances that he is dealing with this as well.. he is adopted but he has all the classic symptoms the numerous rashes especially around his eyes and cheeks View Answer |
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2008-10-28 |
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Recent genetic testing resulted in the following:
Results for myself, a 42 y/o male:
arr cgh 16p13.11(RP11-81L19-->RP11-963L5)x3
Results for my 16 y/o son:
arr cgh 16p13.11p12.3(RP11-81L9-->RP11-785H24)x1
Results for my 12 y/o son:
arr cgh 14216p13.11(RP11-81L19-->RP11-963L5)x3
My 16 y/o was diagnosed 1 year prior as PDD/NOS. My 12 y/o and myself are currently undiagosed, although ASD is suspected in my 12 y/o.
I suppose the issue for me is...what does this all mean?
Are we now pre-disposed for any future health problems, or is it really just the possibility of passing this problem to future offspring, along with it's developmental delays/ASD? View Answer |
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2008-10-24 |
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Hi....
I have a son that has a unique chromosome deletion. What can you do to help us out with further research or awareness?
Please call or email me back.
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2008-10-21 |
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My daughter recently had some chromasome testing done and they said there is a "duplication on #12"
What does this mean and could it possably be linked to her learning problems or her dyslexia or add???
She also has some sort of a cafe au late place on her face that is getting larger as she grows.
Help what does all this mean and what could she possably have, please point me in the right direction. View Answer |
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2008-10-16 |
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Is there a geneticist in Chicago who would be interested in helping me to understand/treat my daughter's abnormal karyotype del(6)(q25.3)?
Or more formally monosomic for the terminal region of the long arm of chromosome 6 (band q25.3 to qter).
Clinical details: Microcephaly and developmental delay. Not dysmorphic.
If so, who may I contact.
Thank you and best regards.
View Answer |
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2008-10-08 |
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Our amnio results came back indicating an abnormal chromosome: a paracentric inversion of one chromosome -- 46, XX, inv(18)(q21.1q23). I understand what an inversion in and my husband and I have had blood drawn for chromosome analysis and are awaiting our results. If the inversion is not inherited from one of us, but is "de novo": 1) What is the probability of mental or physical abnormalities in the child, 2) Are there any further tests to help better determine/define prognosis, and 3) Are there other cases like ours we can look at?
Thanks in advance. View Answer |
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2008-09-27 |
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My daughter was born at 29 weeks . All the doctors thought she had trismony 18 due to heart defect, clinched fist, and rockerbottom feet. Her feet are now flat but still has clinched fist . Is there a chance they may have missed trismony 18. Something in my heart tells me she has it .
What do you think ? SHe is 8 months old and deveolping failry well . SHe is learnign how to craw and doing well. View Answer |
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2008-09-24 |
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We have a 15 month old daughter with delayed gross motor skills. All skills are on target for age range except walking. She is pulling to stand and doing early stage cruising. The doctor performed a chromosome test which found 46,xx,add(9) p22. All the reading I've done on this area of the chromosome show much different issues than what our daughter is presenting. We have an appointment for further testing in Novemeber but hope you may have some additional information on this chromosome configuration. Thank you. View Answer |
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2008-09-21 |
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My daughter was a 29 weeker long story . Anyways at birth she presented clinched fists ,rockerbottom feet , and heart defects . They told she had trismony 18 when the gentic test was showed that chromesome fine . then they tested all of them test came back to say she had a extra long arm (something 1Q ). After her father and I went to get tested . Her father came back with the exact chromesome problem. Her fists are opening up said hands were that due to postion in utreo. Feet turned out to be flat feet. My daughter is now 8 months old . If her father is just fine . Will our daughter be as well ? She is learnign to craw which they say is good since she eary and they look at her as 5 monthd old and she is right on about on tager for a 5 month old. View Answer |
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2008-09-20 |
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Hi...
I was told (after genetic testing) that I have a hypomorphic 15th chromosome. Just wondering about that...
Thanks... View Answer |
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2008-09-03 |
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My son is 4 years old and was just diagnosed as having a 1.6Mb deletion of chromosome 3 long arm genetic material located at 3q29qter region. It was originally thought from his symptoms that he had angelman syndrome (original clinical diagnosis from his pediatric neurologist). Is this chromosome abnormality generally inherited or is it some sort of mutation? He is 4yrs and 6 months and has severe cognitive/speech delay, hand flapping, and an unusually happy demeanor. Can you tell me what to expect from this chromosome 3 deletion? Is there a specific test that should also still be done to check for angelman syndrome? View Answer |
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2008-08-28 |
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We used a egg donor with my husbands sperm and a surrogate. Our baby was stillborn at 5 months. The cord blood result stated GTG-banding Chrom 46 meta examined 20 meta karyotyped 3. Interpretation 46.XX, dup (8) (p23.1p23.1). 8p23.1 duplicated. What does this mean? We have frozen embryo's should we use them? View Answer |
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2008-08-24 |
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My adopted child is 21 months old and has been to a developmental pediatrician, who ordered blood work. Once the blood work came back she called and told me that it shows an extra piece in her chromosome 10. What does this mean? We do know that she is behind in speech. We also know that her parent has developmental issues and other issues. Thank you for your time and help.
View Answer |
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2008-08-23 |
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I just received my results from the amniocentis and I was told that My #2 chromosome is inverted. I was told that all the genes are there- and that they are not missing anything -but it is inverted. The test came back clinically insignificant. Can you tell me what that means?
What are the consequences of an inverted chromosome.
They suggested that if i was concerned that we should go for Blood Chrmosome test to find out more information - but we didn't have to. is this something that i should be worried about? What can this mean for my baby. The nurse said that she wasn't that concerned?
View Answer |
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2008-08-07 |
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My grandson is almost 4 years old, he has develpomental delay, verbal, fine ,gross motor skills.He has been in early intervention schooling since age 2. He had a speech therapist who started to teach him to sign. He is a very friendly, happy kid. He understand what we say , he just doesn't seem to have the words to respond. Ask him to get you anything and he can, but ask him to tell you what he wants, he can't. He also does this little dance thing and wrings his hands when he gets excited. After many months of therapy and doctors visits, someone finally listened, and ordered genetic testing. This is what they said, can you help me to understand what this is and what it means for my grandson.
(each metaphase had chromosome 11 with additional chromatin on the p-arm, near the centromere which was c-band +)
Thank you, View Answer |
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2008-08-06 |
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Can a woman born with mosaic down syndrome have a chance of having a baby without down syndrome? I believe I may be a carrier. I was born with it and have been fine for 31 years and do not have down syndrome at all. I had a blood test done and it came back 46 chromosomes. No abnormality whatsoever. View Answer |
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2008-08-01 |
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My amniocentesis results came back with the following result-"cytogenetic analysis shows an apparently balanced peri-centric inverson of one chromosome 10. Result: 46,XY,inv(10)(p11.2q22)." My husband and I have had our blood drawn for chromosome analysis to determine if either of us carries the rearrangement but the results have not come back yet. My question is-if this is a non-familial rearrangement, what kind of congenital abnormalities are associated with this rearrangement and what are the percentages for these abnormalities occurring? View Answer |
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2008-07-25 |
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My sister had Wolf Hirschhorn Syndrome and lived to be almost 16 years old. Her name was Hope Katherina Nash and she lived in southern California with her caretaker. I am trying to find out if I carry the condition or if I have any chance of passing it on to my children, when I have them. My parents had a lot of genetic testing when she was born and it was supposedly a freak genetic thing. Do I have a chance of passing this onto my children? View Answer |
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2008-07-25 |
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I have a granddaughter with an Inversion of Chromosome 1, The doctors here in Knoxville has never seen this before! she has alot of problems, just wondering if you have any suggestions!!! Thank you View Answer |
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2008-07-16 |
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My 17 month old grandson has suffered seizures since April and our family was just informed that he has an extra 6th chromosone which is combined with the 15th chromosone. We are told he is the only recorded person on record with this condition. He suffered a seizure Tuesday and is in the hospital on a ventilator which is hoped to be taken off once the sedation wears off. We are told there is no information on record and he is the only recorded one now. We are shocked and baffled to what to expect for him. We would be so grateful for any information or foresight you might provide us.
Loving Grandma View Answer |
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2008-07-10 |
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My grilfriend is 17 weeks peregnet and we werre just informed that the baby has a paracentric inversion of the log arm of one chromosome 6 (q11q14). We talked with and genetic counslier and she had us give blood to find out if we have the abnormalitie. She also said that the break was mostly in the "junk" genes. The genes that are not active. My question is because the break is in mostly junk genes part of the chromosome then is there any less of a chance that there will be a problem if any of the genes are losed in the inversion? View Answer |
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2008-07-10 |
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I had two early miscarriages one at 8 weeks and the other at 5 weeks. I am 30 years old and in good health. Both me and my husband did blood tests and the results of my karyotype were:
Results: 46,XX, inv(10)(q21.2q23.1)
Interpretation: "an abnormal female chromosome complement with an apparently balanced paracentric inversion on one chromosome 10 was obsverved in all metaphases"
What does that mean? It is obviously associated with the miscarriages..Could preimplantation screening be right for us?
Any help will be highly appreciated
Thank you in advance View Answer |
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2008-06-30 |
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My husband and I finally received the results of our chromosome testing...our 8 year old daughter was originally tested for academic difficulties and mood problems etc. she was a preemie and is still rather on the small side...mine came back identical to hers... 5p 15.33 572 kilobases.... and an abn hibernatizion pattern (?not sure on the last one)...my husband is perfectly normal...we have an appt in about a month for counselling...but they tell me that it's really nothing to worry about..now that they know that I have the same thing and I am 'normal'...what does this result mean? should I be concerned? they tell me it's just a benign familial thing...what's the next step? View Answer |
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2008-06-27 |
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I have two sisters with Down syndrome. My mother is a carrier for DS; therefore, my sisters have translocation DS. I have been researching the topic and know that the chances to have a child with DS when the mother is a carrier is approximately 15%. But what are the chances for having a child that is a carrier? I realize I will need to be tested. One of my normal sisters was tested, and she is not a carrier. I am just curious what my chances are before getting tested. View Answer |
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2008-06-22 |
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Hi, my husband and I are trying to have a baby for five years. We have been trough 4 IVF ( every time transfered 2 blastocytes )cycles and nothing. We are both healthy, could not find anything wrong, so we did imunology testing, HLA typing and Karyotyping. I was discovered a pericentric inversion of chromosome 9
(p24q32). Is it possible that this is the reason for my infertility? I was sent to do PGD, will that help me to have a baby? Am I atall indicator for PGD, will the clinic do PGD on me and my inversion of chromosome 9?
Thank you View Answer |
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2008-06-15 |
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Hi there,
I've recently had a bone marrow biopsy (because of anemia) which showed that I had an abnormal karyotype. Chromosome 20 was missing from 4 out of 25 samples. The lab report stated that this could be an artifact. Should I consult with a geneticist to determine whether this abnormal karyotype provides a clue to health issues I've been dealing with over past few years? I have quite a bit of muscle atrophy everywhere and loss of strength, however my blood tests are normal. Many thanks. View Answer |
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2008-06-09 |
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"Tetraploidy" I am 11 weeks pregnant and 36 years old with my first child. My husband was adopted and we don't know his medical history. I'm in good health with no genetic family problems. I went for my first trimester screening at 10 weeks. The baby's heart rate is 184. On the ultra sound the thickening of the neck was too large. The specialist asked if I wanted additional testing. I agreed to a CVS. They tried to go through my cervix but was unable to, so they went through my abdomen. The results came back that the placenta has the condition Tetraploidy 92 chromosomes in each cell. XXYY. The doctor says there is a "chance" the baby might be ok and only the placenta is effected. However, this will cause growth problems because the placenta will not be working correctly. I don't know if I should wait to do the amio to confirm or terminate. Do you know how Tetraploidy can happen? Can you possibly give me some information on Tetraploidy? I find little on the internet.
View Answer |
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2008-05-25 |
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Good evening,
My brother and his wife are 15 weeks pregnant and since she is 39 they opted to have CVS done at 12 weeks. The results of the blood work came back neg., the U/S looked good at 12 weeks growth on target, heart rate good. CVS results showed 4 cells had tetrasomy 9 mosaic on them. Rest of the cells were normal. Genetic counselors/doctors said that this is so rare they can't really say how or if it is affecting the baby. If it's an abnormality in the placenta with no affect on the baby. They are scheduled for an Amnio. Info on this is limited. Are there studies available about this being a false positive test result on CVS and the baby being healthy with the abnormality being just the placenta and if a mosaic diagnosis is less severe than non mosaic? What are the chances of the baby being affected if the level 2 anatomy U/S, Amnio, fetal blood sampling from the cord are all normal? Thank for you time.
View Answer |
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2008-05-24 |
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Hi, My 8 yr old daughter was recently tested for a genetic workup...we got her results and they stated that she has 'extra material' on her 5th chromosome...now my husband and I are getting tested...should I be worried, what does this mean? the MD tells us it should be 6-8 weeks before we know anything more...I have four other children...should they be tested? What could this mean for my daughter? she was premature, still struggles in school, and has moody periods...she seems a little different then my other kids...should I be concerned??? please help...6-8 weeks is a LONG time..
View Answer |
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2008-05-24 |
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New male pt, 25 was having unprotected intercourse for over a year without his girlfriend getting pregnant. She had previously been pregnant. Sexual functioning is very active.
Physically he looks normal, I did not do a genital exam on that first visit. I did order a semen analysis. He is completely azoospermic. Could this be Kleinfelter's? I will be bringing him in for exam and tests, should I order genetic analysis with the initial tests (FSH, LH, Testosterone.) View Answer |
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2008-05-23 |
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my daughter had 2 miscarrages, both occurring @ 7-8 weeks. tests done on the 2nd one showed trisomy 18. is there any tests that can be done on her & her husband pre-pregnancy to find out the chances of this happeing again?
View Answer |
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2008-05-23 |
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My wife and I are considering having a baby but are worried. Her uncle on her dad's side has Down Syndrome and one of her second cousins on her dad's side has it also. Is there a chance that she could be a carrier? Her mom side as no history of the disorder. View Answer |
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2008-05-15 |
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I gave birth to my son in Feb of 2004. He spent 1 month in NICU at Children's Hospital. During some testing they discovered my child was born with an inverted number 9 chromosome. Once they discovered this, they ask to test my spouse first and if his can back fine they would proceed to test me. My spouse's came back positive for the same abnormality. My husband has no problems or mental issues. We were never explained what this condition was exactly. This has been on my mind for 4 years now. Can you tell me what inverted number 9 chromosome is,and what i need to watch for if anything? View Answer |
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2008-05-14 |
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i had aa child with trisomy 13 will it come again if i have another child by the same person View Answer |
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2008-05-12 |
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I've wondered for many years now about how people with chromosomal abnormalities are classified. If you don't have 23 pairs, are you considered a subspecies? ie - wolves in sheep's clothing? View Answer |
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2008-05-11 |
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My five year old daughter has been found to have a 2q37.3 partial trisomy. She has had developmental delays with language and fine motor. She has a short stature, small hands and feet.I have not been able to find any information or research on this at all. I have an apt with a geneticist in a few months. My husband and I have been tested but haven't gotten any results yet. Where can I find more information about other who have had the same trisomy. View Answer |
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2008-05-09 |
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I have cgh results that say deletion of 3 bac clones at chromosome 21q22.11 what could this mean? My son is 2 with developmental & speech delay View Answer |
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2008-05-06 |
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Our baby was born and lived 3 days. She had several birth defects. We have come to find out she had Trisomy 15 in 80% of cells. The extra #15 was made up of part of #1 and part of #15 which then formed a ring. We are currently going for genetic testing. Is there anything else I need to know ? or Did anyone ever hear of this happening? or How rare is this ? She also made it full-term and lived for 3 days. How is that possible without miscarrying? View Answer |
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2008-04-29 |
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Both my son and I have the same deletions on 2q37.3 (GS-1011017, RG-172I13 and RP11-341N2)
Now, these deletions have apparently been found in both normal individuals and in individuals with abnormal phenotype.
It's the opinion of our genetist that this is just a population varient and probably means nothing. Now, I've learned of something called 2q37.3 syndrome. My son seems to have many of it's charachteristics ie: Dysmorphic features, developmental delay, hypotonia and autistic tendencies (he's 14 months old).
My question is, can a male child be symptomatic of these deletions while the mother with the same deletions be asymptomatic?
You opionion is greatly appreciated!
Thank you! View Answer |
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2008-04-25 |
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I am the grandmother of a be grandautifulson who is 3 years 4 months old. He was adopted at two days old. My daughter and son-in-law went to the hospital to get him, and were told the blood work was all fine except he was missing one chromosome but weren't told what that meant or could mean.
He's displaying behaviours that cause concern. He's a bit compulsive about the placement of his toys. He paces back and forth for extended times. He gets excited ,jumps up and down, waves his arms up and down. He has started having night terrors. Overall he's a healthy, happy loving little guy. What testing can be done to determine if chromosomal issues are present. Can we ask for the original blood test results or are there tests they can do now to determine this? My daughter is currently looking for a child psychologist with a good reputation to determine if he has ADHD, high functioning autism, asperger's syndrome and another concern is Fragile X, I believe it's called. and am doing. View Answer |
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2008-04-25 |
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Can a son inherit a small long arm deletion from a mother and present anomolies while the mother is apparently normal?
If so, where can I get more info on syndromes? View Answer |
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2008-04-24 |
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My husband and I conceived a baby late last year. I had a nuchal translucency scan and the lab work at 12 weeks gestation that came back as a high likelihood for a trisomy. I had an amnio at 14 weeks that confirmed Trisomy 18. We waited until 15 weeks to have another ultrasound and there was no cardiac activity.
Everything I read states that there is a 1% chance of a recurrence of a Trisomy in a subsequent pregnancy. I am 43 and my husband is 44.
Is there any other information you can give us about recurrence rates?
Thank you View Answer |
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2008-04-21 |
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My nephew has been diagnosed with Partial Trisomy 6p Disorder, autism( middle to highon the spectrum), and sensory intergration disorder. We are looking for any info. on Partial Trisomy 6p, we have very little. We want to know all the characteristics, statistics, life expectancy, etc. Please help. View Answer |
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2008-04-20 |
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Is there any known association of any specific bleeding disorders or problems in patients with Trisomy 18. Example a child with trisomy 18 and freq petechiae and what seems to be pretty easy and extensive bruising. View Answer |
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2008-04-16 |
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My 5 year old son had micro array tsting done. They just phoned me and said that he has extral material on chromasone 4. They said they have nobody eles with this. My husband and i have to have blood work done. They said if one of us has it, it would be no big deal but if he has it on his own then we would have to go back and see them. Does this sound right? And do you know of anything to do with chromasone 4? And if he got it from one of us why would it be nothin to wory about?
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2008-04-14 |
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I am a social worker in northern Minnesota. I have a client that the family reports having a "chromosome 10 disorder." This is all the information that has been provided to me. I have recently put this client in residential placement (developmentally disabled) and the provider, as would I, would like to get some information on this. Do you have any information on this or can you provide a way for me to get this?? Thank you. View Answer |
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2008-04-09 |
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I have a client -7 yrs old, diagnosed with Chromosome 18 abnormality.I am curious to know if these children might have associated sensory processing disorder(sensory based motor disorder).Would u be able to provide me with the differential diagnisis for the various types of sensory processing disorders? Thank u!
View Answer |
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2008-04-09 |
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Our fetal daughter was diagnosed throough Amnio with a satellited marker chromosome. 47,XX,+mar dn. Upon blood testing both parents, it was determined that this is a de novo case. FISH analysis determined it was derived from the centromeric region of either chromosome 13 or 21 and does not contain the 21q22.13-q22.2 region.
The report refers to a 1998 study by Dr. Crolla in which occurence of pheotypic consequence is 11%
Ultrasound shows normal development at 20 weeks.
Have there been more recent studies related to phenotypic consequences and or longer term studies of patients with this arrangement? Can the risk be revised with normal ultrasound? View Answer |
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2008-04-06 |
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My daughter is 15yrs old and has a small deletion 4p16
She has OCD, ADD and autisic spectrum. She has progressed very well. She will be in high school this fall and i am concerned about her behavior. She has become very defient,talks back and does not like to be told what to do. She is in a regular class setting with resource classes and regular classes with modifications. She is at the 4th grade level but continues to progress. Her behavior gets in the way. View Answer |
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2008-03-28 |
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My 21-yr.-old daughter has Trisomy 13. I would like a clear explanation of the difference between a translocation trisomy 13 and partial trisomy 13. My daughter has 23 pairs of chromosomes plus an extra (47th) chromosome composed of part of the long arm of chromosome 13 and part of the long arm of chromosome 15. Some have told me that my daughter has partial trisomy 13, and some have told me that she has a translocation. It seems that if she had partial trisomy 13, she would also be dx'ed as having partial trisomy 15, since the portion of 15 copied is not insignificant in size or genetic content. If she has a translocation, it apparently occurred de novo, since my husband and I both tested as having 46 chromosomes. Some info I have seen re translocations, even that directed to families of those with trisomy 13 rather than medical professionals, is unclear when the term translocation arises. I am aware that there are various types of translocations - Robertsonian, etc. View Answer |
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2008-03-19 |
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Hi, Im a 24 year old woman with a 13 month old, healthy baby. Im currently 26 weeks along and I just recently discoverd that my baby has tertaploidy. I have the understanding of this being a chromosome abnormality and that the baby has 92 chromosomes insted of only 46. What I cant find however is what causes this? Should this have been a twin that just didnt split? How rare is this condition? Is this a genetic disorder and do I need to be aware that this could happen in future pregnancies? Sorry for so many questions but Im desperate for answers. View Answer |
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2008-03-16 |
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is the frequency of trisomy 21 higher in chorion villus samples than in live births? surely not, since most Downs babies survive to term, correct? View Answer |
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2008-03-16 |
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My husband and I are both 38 years old and trying to conceive. We both have a family history of Down's syndrome; I have a paternal great uncle with it and my husband's maternal grandmother's niece has it. Would you advise that we do genetic testing prior to becoming pregnant to determine if we are at a greater risk of having a baby with Down's? View Answer |
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2008-03-03 |
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My son has 22q are there any bone disorders associated with this? Are his bones likely to be weaker than normal? Is he likely to have any problems with his skull? View Answer |
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2008-03-02 |
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If a child is diagnosed with a genetic disorder (e.g. 9q34.3 deletion) and it seems well know what enzymes. proteins, etc. that this area makes, why can they not be given supplements in some fashion (e.g. injections, bone marrow transplant, etc.) to help their development? View Answer |
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2008-02-29 |
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My husband & I have a Down Syndrome child. She had genetic testing at Baylor & they determined that she had Down's because of my age at conception. (I was 36) My older daughter's father and his wife also had a Down Syndrome child.
What are the chances of my older daughter having a Down's child?
View Answer |
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2008-02-29 |
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Our adopted son recently had genetic testing come back saying he had a "duplication of long arm on chromosome 17 at band q25.1" I can find very little information on this. Any assistance would be greatly appreciated. View Answer |
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2008-02-29 |
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I am a 27 year old female experiencing two years of infertility. After a chemical pregnancy from IVF/ICSI #1 my husband and I did a chromosome analysis. His results were normal, mine were 2/50 cells 45X. They recommended I do a FISH analysis, my results were 10/500 cells 45X. I have zero symptoms of Turner's. I am tall, ovulate, started my period at age 12, no other health problems. I was told my results were "possible low level mosiacism." I do have a family history of POF (my mom and maternal grandma), but no one has had fertility problems and still had no problems conceiving into their mid 30's.
What does this mean for my fertility and health in general? I am scared and really surprised by these results. Does this mean I have Turner's? BTW, my other cell line was the normal 46XX. Thank you for your help! View Answer |
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2008-02-26 |
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We recently discovered that our 2 year old daughter has a duplication with 22 Q 13. As an infant she had hypotonia, reflux and hip dysplasia that required a brace for a few months but now is doing well. She still has low muscle tone and dev. delays. sat at 12 mths, walked at 22 mths. talking 18-24 months and does some signing. The Genetic counselor told me that it was rare and she could only find a little info about it. i.e. hypotonia, poor growth, dev.delays and mod. retardation. She has some mild sensory issues & demos great cognitive. Her speech is constantly increasing& she is not growth delayed. At times she is a little unsteady on her feet & walks like a drunk, but this is improving. With finding this genetic info out, I would like to know what this means? I cannot find any info about this.It all deals with deletions, not a single duplication. Could you please tell me what you know about this? What I can expect for her? Will she most likely be mentally handicapped? Thank You View Answer |
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2008-02-22 |
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I am the grandmother to a 6yr. boy,that has the no5 chromosone inverted on the bottom half. He has short term memory loss,cannot speak in full sentences or write is name,but he can and does use wrenches in his grandfathers shop with proficiency. He walked late and did not talk until almost 3yrs. of age,then only in single words.He has had an MRI of the brain that showed no abnormalities. He has been seen by many specialist including a behavioral specialist,neurologist.Please can you tell us anything that might help us. All the other doctors can not give us a diagnosis. View Answer |
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2008-02-21 |
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I was wondering how do the genes of someone with Edwards Syndrome differ from someone who has "healthy genes". Is it only that there is an extra chromosome on chromosome 18 or is their more to it than that? View Answer |
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2008-02-18 |
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Hi, I'm 32 weeks pregnant with a little girl diagnosed by amnio as having full Trisomy 18. However, she has only a very few of the 'common' symptoms (VSD, clenched hands, and a growth on her lung). What are the odds that her condition might actually be mosaic instead of full?
Thank you! View Answer |
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2008-02-17 |
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I just found out that 2 of 30 (7%) of my chromosomes exhibited X chromosome aneuploidy. My results are 45, X(2)/46, XX(28). I am 28 years old and have been struggling with infertility for almost 2 years. All of my test results (until now) have been completely normal. My next step was injection drugs with artificial insemination (that was before I knew about my abnormal chromosomes). 7% doesn't seem to be a great risk, but I don't know what my risks are and how I should go about continuing my quest to have a baby. What are my options and what should my "game plan" be? Thank you for your time and expertise :) View Answer |
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2008-02-16 |
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Our Daughter had secondary ovarian Failure at the age of 15. The Endo she was referred to ran Karyotype and came up with 46X del Xq13.2 . The only feature she has of Turner Syndrome is the short stature 46 3/4" and secondary ovarian failure. She did start her periods at 13 and developed well otherwise. She has digestive problems of constipation and is now on a therapy of HRT 4 osteopenia and low Vit. D. The treatment of Vitamin D has amazingly resolved really disturbing problems with lower limb weakness and muscular problems. No facial features or defects.Can a doctor look for a specific condition like Turners and miss the actual diagnosis? When a Karyotype is done are all the genes (chromosomes?) looked at for abnormalities? Should we be aware of other conditions like Cystic fibrosis or any other condition which also causes growth failure etc.? Family history has Pancreatic cancer on both sides of maternal and enlarged heart, thyroid and digestive problems on paternal. View Answer |
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2008-02-11 |
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My son is 12 years old. when he was born he was diagnosed with Apraxia of speech. As he got order we were told that he was neuolgically delayed. He had a a MRI that revealed a white focal mass that was probably insignificant. We were also was told that he had a chiari malformation. It has not required treatment. He functions academically at a lower level. He has had two VPI surgeries to help with his speech. He has hypotonic muscles. We also were told that the centromere in one of his chromosomes was larger than normal (18). At the time a geneticist told us they really didn't know what the significance once, but somewhere down the line they would probably have a syndrome for all the unsual symptoms. He has seen alot of doctors here in Pittsburgh and they are all perplexed by him. They say is a most unusal case. I know how much genetics change and I was wondering if there was any light you could shed on the situation. Also, should the karotype be repeated? View Answer |
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2008-02-08 |
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Hello, my little sister was born with a pin hole in her heart is that a part of downsyndrome? also I was told she had downsyndrome she didnt make it through the 3rd surgery to repair her heart @ 4yrs old. My ? is if my mother had a downsyndrome baby when she was 44yrs old is it possible for me to have one & I am 42yrs old & thinking of having a baby. I do have 1 older boy 24yrs old, but we really have been thinking that if we have one we need to do it now. What is your advice? View Answer |
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2008-02-07 |
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Does the error in cell division that creates trisomy 21 happen during the meiosis process that created the sperm or egg? If this is the case, I'm confused as to why a woman's chances of having a baby with down syndrome increases with age, as woman are born with all her eggs. Shouldn't the risk be the same at any age as the error in the division would have happened before she was born? Do we not really have fully formed meiotic eggs when born? If not, how far into the process are the eggs before meiosis is paused? When is it finished- right before we release the egg? View Answer |
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2008-02-05 |
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Hi Well I dont really expect an answer for this. But I always have wonder. And still have not find an answer to this. I recently found out of extra chromosones. Didn't really care to know about the topic. But I has always felt I have an extra chromose and its really looking for its pair to be perfect View Answer |
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2008-02-05 |
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My husband's nephew was born with Down Syndrome. I was informed that only the mother can transmit this condition. Are there any tests available to know if I have the genes that will put me in higher risk of having a child with down symdrome? I am 41 and have one child. I am afraid of trying another one.In South America the women who are having children with Down Syndrome are very young (20-30).
Thanks for your answer. View Answer |
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2008-02-05 |
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My dtr has been diagnosed with 18p- syndrome. She has regressed some or maybe not progressing but in a hunt to see if they can find anything else wroung with her they found low copper and low ceurolplasm. could she just have low levals or are we looking at menkes syndrome. (wilson test negative).
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2008-02-04 |
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What Is Test That can Determine Which Gender Has The Trait Or Was This Just A Fluk( The Odds Was Not In My Favor).Is It Possible To Have A Normal Baby After The First One Surpass. (Like Cause My first one ended up, the baby has trisomy 18 right, and if she get pregnat again what do i do to prevent this from happing again. Is it me or Her?) I would like to know View Answer |
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2008-02-03 |
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My husband and i had a daughter that had trisomy 18... subsequently she died from CHD...(an undevelopment of her heart) what are the chances of this occuring again if we try to become pregnant again? View Answer |
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2008-02-02 |
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I was wondering if you had any pictures of kids with Trisomy 18(Edwards Syndrome).I also want to know why does Trisomy 18 occur? Mainly if you could send me information about Trisomy 18 (Edwards Syndrome), and if possible what it is like to be a kid with Trisomy 18, if you live past your first birthday. Thanks a lot!! View Answer |
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2008-01-31 |
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My son was born 12/20/07 and diagnosed with having a partial trisomy 18. The only information I can find about a partial trisomy is also having a translocation. The doctors say that it is not a balanced translocation because no other chromosomes are involved. His cytogenetic diagnosis is as follows:47,XY,+18,del(18)(q12). I would greatly appreciate it if you could give me any information at all.Thank you. View Answer |
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2008-01-31 |
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Hi, im doing a brochure on Edward's Syndrome and i am having trouble finding the treatments for it, so i was wondering if you could tell me how thats done or point me to a web site that might have it. Every site i have been to has said Trisomy 18 is planned on a case by case basis. So, e- mail me back please!Thank You so much View Answer |
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2008-01-30 |
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My husband as two sisters with down syndrome. We have a two-month old boy that was born normal other than a club foot condition. My question is if I am at risk of having a baby with down syndrome because of my husband's genetics, or what are the chances of this occurring? View Answer |
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2008-01-30 |
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My daughter was born with a rare chromosome makeup and was wandering if you or anyone has any information on it. She was born in March of 2003 and we had her tested in June of 2003 and this is what they found: She is missing part of 14 and has an extra 5. When her test results came back they told us she was the only one in the world with this makeup or that had been reported. They are at these points, Monosomy 14q32.3 - terminus and Trisomy 5p15.1 - terminus. This is what was written on the sheet that her genetiscist gave us. She has battled a lot of developmental delays but other than that she is a very healthy little girl. I am looking into having her retested b/c I was told that they have improved genetic testing a lot since '03 and I may could find out more details of the breaks and duplications she has. She has been compared to the Cri Du Chat syndrome and she has a lot of those characteristics both appearance and metal well being.thanks! View Answer |
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2008-01-29 |
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I first of all would personally thank Emory University for everything! Your university delivered my sons results of 17q21 deletion syndrome to our geneticist. I have been searching since the day of the diagnosis for other parents of 17q21 del syndrome, I just found 1 parent yesterday in Canada. I was told that my son was the first case in the US but this new mother informed me that there was another case in New Hampshire and is supposed to be sending me her contact info. As I was searching tonight to try and find moreinfo. I saw the post that was updated on 12-10-07 of another mother searching as well. So incase she sees this,the other mother and I are members of both sites you mentioned. So now I know for sure that there are 3 cases (through my research)in the US. She notes in her post that she was told 5. Do you know how many cases there really are in the US? Does anybody? How can we get all of these cases together so that we can compare the symptoms as well as the deletions? View Answer |
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2008-01-27 |
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In my family, I have a sister with Turner syndrome and a first cousin with Down syndrome. My mother had her genes karyotyped and everything was fine with them. I was wondering what the chances are of me or my children (I do not have children yet) being affected by any of these disorders. View Answer |
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2008-01-27 |
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What would be the criteria that would lead to prenatal testing being done for Cri-du-Chat? Is it a routine test or is it done because of an abnormality of another prenatal test? If the prenatal testing is done because of another abnormal prenatal test, what test or tests would that be? View Answer |
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2008-01-24 |
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Does a mother giving birth to a child with Trisomy 18 face a greater health risk than a mother giving birth to a baby without any gentic condition? View Answer |
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2008-01-23 |
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Hi my sister in law and brother in law just had there first baby and she is having some problems they said she is missing the chromosone 15 and 18. Could you please give me some insight on this? Will the baby be ok will she have learning problems she also has no nose holes and they are going to do a trech on her throat so she can breathe. Could you please tell me if there is a name to this disorder? View Answer |
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2008-01-23 |
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My 11 year old had genetic testing in November, he is mentally retarded, with muscle weakness and several other problems but I have no idea what it means on the report and they didnt help out much either, can you tell me what it means:The report said that all metaphase cells analyzed were abnormal and showed a structurally abnormal chromosome 15 with additional material of unknown origin attached to the short arm. Due to the morphology further identification could not be made. I had blood test done yesterday but that still doesnt tell me ANYTHING! Could you please give me an idea as to what it means. I am very confused, they didnt tell me what they are thinking is going on etc. View Answer |
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2008-01-23 |
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My daughter has the following karotype: der(13), t(3;13)(q29:q34). She exhibits global developmental delay. I have recurrent lipomas on my neck, but am otherwise healthy. My mother was healthy until she developed syringomyelia, a central nervous system disorder, in her forties. The disease was dormant for a decade but she died from its effects at age 63. My maternal grandmother (a twin) was born "floppy", and not originally expected to live. She developed normally and lived a full life and had normal intelligence. My question is with all the mapping for the human genome project and other chromosomal and genetic research is there any data linking my daughter's issues to my maternal grandmother or is there anywhere this type of data can be registered to research such a linkage? Both my and my husband's chromosome fish studies were "normal".
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2008-01-21 |
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I have a two month old baby girl and the doctor's at first told me that she has Down Syndrome. but now they tell me only half of her cell's carry the extra chromozone 21. what does this mean? and what does she have? View Answer |
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2008-01-17 |
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My daughter was diagnosed with a 15q12 duplication at 8 months old. She has been delayed, but not severely. She sat at 8 months, crawled at 11 months and at 16 months is very close to walking. She babbles, but no words. Her growth and eating and sleeping are excellent. We have been told that this duplication is very rare and small. Most children are trisomy or 11-14 band is all duplicated. No one hear knows what to expect. Everything I read is larger duplications. Any insight? View Answer |
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2008-01-16 |
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I am the mother of a child who has an inversion of the lower third of the 5th chromosome. I was told that this was a balanced inversion, no genetic material was gained or lost. At the time (14 years ago) no information was available as to what this might mean. Can you give me any info now as to what kind of defects or health issues are associated with this type of abnormality? View Answer |
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2008-01-15 |
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I had a blood karyotype done which showed 46xy/46xx. Another two blood test and a skin biopsy revealed 46xy. I was told that the original karyotype must have been a lab artifact as the other tests came back normal. I was told that a gonadal biopsy would be the most effective test to determine mosaicism. My question is would this test be the most effective and if so why? Also if not then what test would be best? View Answer |
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2008-01-11 |
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My niece was diagnosed with a chromosome 2 abnormality. The doctors at TX children's hosp say that it is VERY rare. My brother in law said the doctor had no name for it they just called it Chromosome2p24.2.3(? That is what he said)). I have been looking all over the internet for information without any luck. I am a PICU nurse and have looked through all the neuro books at the hospital and asked all the MD's still no luck. I was wondering if someone could please explain it and the prognosis of the condition to me. Please help if possible. I really would like to be able to help my family with more information. Thanks. View Answer |
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2008-01-11 |
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My two year old son had a blood test done for genetics at Childrens Hospital of Phila.We found out that he has a duplication at xp22.31q, he also has several developmental delays and is currently being tested for austic spectrum disorder.He has severe food and environmental allergies,he had deformity of his ears (cryptotia),and he had scrotal webbing deformity. He also has asthma and the doctors think he has chronic lung disease although he was not premature. My son also suffers from Sensory Intergration Dysfunction,and reflux.We can get no answers about this duplication, and the immunologist is suspicious that this duplication is the root of the problems.What is this duplication, what does it mean,is there any help out there.I had blood work done and was labeled a carrier,my 11 yr old had the same test and he was diagnosed with the same duplication, he also has ADD,auditory processing disorder,and continues to struggle with developmental delays in school.Please help!!! View Answer |
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2008-01-10 |
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I am having trouble getting pregnant and have had 2 miscarriages. I had my chromosomes analyzed and they found that I was mosaic 18, so I have an extra piece of a chromosome 18 in addition to the regular two chromosome 18's. My mother was tested and has the same thing. I am 32 years old. What are my chances of having a child that has Trisomy 18? I cannot find this information anywhere. Also, my mother had a still born with a neural tube defect, and she had a cousin that died at 4 months old that also had a neural tube defect. I just read that this could be caused by Trisomy 18. Do you think that's what those babies might have had and does that increase my risk of having a baby with it? View Answer |
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2008-01-09 |
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My half brother has downs syndrome and my father's new wife has had three pregnancys that showed severe abnormalities in prenatal tests. My husband and want to know our risk befor we decide to have children. Where can I get genetic testing done to determine if translocation Downs is in my genes? Do my husbands genes have any effect? View Answer |
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2008-01-08 |
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hello:can i marry a girl who has a mongol {down syndorme} brother 8 years old and having a normal children from her , and if there is any trusted tests before marrige and during pregnancy to ensure a normal generation . thank u & god bless u . View Answer |
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2008-01-05 |
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I am 34 years old. Last year, I was pregnant for the first time and the baby had down syndrome. We lost our baby and the horror of this experience has left me frozen. I am terrified to try again and I am desperate to find out the cause for down syndrome. I know the cause is unknown, but hasn't anyone in the medical community tried to research possible causes? I'm a teacher. I have been exposed to so many different viral infections...I've been diagnosed with chronic fatigue...does candida infections have any connection....I was taking folic acid and I found a study that suggested the body may have an inability to break down folate and this may be the cause. My doctor (who had an excellent reputation) just tells me it is a fluke. Where can a grieving mother go for answers? Possible causes? View Answer |
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2008-01-04 |
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My husband has two half-sisters (his same father, different mothers). Each of his half sisters has a Down's Syndrome child. One sister was 20 at the time of birth and went on to have two other normal children. The other sister had two normal children and a Down's syndrome child at age 40. Is this likely related to a transmitable genetic condition? or just a statistical fluke? View Answer |
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2008-01-03 |
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My husband's brother has a child with Down Syndrome. We do not know if it was caused by translocation trisomy 21. While we know that the risk is low for this type of hereditary-related Down Syndrome, we are wondering if there is a carrier test that can be done on my husband to see if he is a carrier of the gene? If his brother was, in fact, a carrier would that increase the likelihood that my husband is a carrier? We are thinking about trying to conceive soon and want to consider testing and risk options (aside from prenatal testing once I am already pregnant). I'm 31 years old, which also factors into our concerns. View Answer |
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2008-01-03 |
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My son has 4q- syndrome.Possible epilepsy,developmental delays,FSHD.He has breathing problems no one is addressing just give nebulizer treatments that do no good.Could this have anything to do with this disorder? Aren't there any tests to do to find out if he has epilepsy or FSHD.We just get told wait and see.I would like to know to be better prepared for what the possibilities are. View Answer |
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2008-01-03 |
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is down syndrome inherited from people other than the person's parents (grandparents, greatgrandparents, ancestors, ect.??) View Answer |
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2008-01-03 |
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What information do you have on curing the genetic disease Patua Syndrome and/or Trisomy 13? View Answer |
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2007-12-20 |
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My 4 month old son was born @ 37weeks.I had pregnacy complications.My son was not growing at the normal fetus growth.When he was delivered he had a chromosomal test done that determined that he has an abnormality in his 18th chromosome.We've met with his Ginetisist and she can not determine exactly what the problems it maybe causing my son.The chromosome 18 is"normal"but it has exess matter on it,this could be part of another unknow chromosome peice.She has ordered a more test to be done.This will not be done till maybe Mar. due to problems with my insurance.Me & my Fiance were also tested and we're not carriers.Though My son is having problems with his weight gain and motor skills, we have a physical therapist,feeding team involved as well.My sons calorie intake has been increassed and it seems not to be helping.He is 4 months and 22 in long 8lbs 2 oz.Do u know of some disorders that my son may have or if there is something that should be tested?Any information will help a great deal. View Answer |
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2007-12-14 |
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I (age 28, my husband 35) am in 17th week of gestation and am considering having amniocentesis. I have a brother with Pierre Robin Syndrome, but he has also some mental handicap (IQ 80), spinal abnormalities, slope eyes and dysplastic ears (however he never took any medicine, nor had a surgery). My parents and he just did the blood testing to determine the karyotype. My parents have normal karyotype, whereas my brother has mos 47, XY,+mar[13]/46,XY[7]. What is your opinion, shall I do the amniocentesis? When is the latest I can decide to have the termination of the pregnancy in case something is not ok? Thank you! View Answer |
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2007-12-10 |
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My eight year old daughter Has a tiny part of chromosome 14 missing.We have seen a Genetasist and we were told that she is the only person in the world on the human genome map that has got this. and we were told so may things.But were told that there is no name to it.I was told a few ot the genes around it is what she has got anyway,at first it was a bit of a shock to find out that my daughter was the only person in the world that they could find with this.i wopuld like to no what genes there are around chromosome 14 that the may have or encounter when she gets older.We waited six and a half years for the results that we were given.could you possibly help with any more help thank you. View Answer |
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2007-12-09 |
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My son has been diagnosed with a chromosome duplication disorder (22q11.2). Although the Doctor's at Boston Children's Hospital are very helpful, they do not have any literature that I can present to his school to better understand this disorder. Do you know where I might be able to find some? View Answer |
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2007-12-03 |
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Our second daughter was diagnosed with trisome 13 after a normal pregnacy. She was placed on a respirator shortly after birth and later diagnosed with the condition. She died after 13 days. A geneticist spoke with us and said that our first daughter, who was 3 at the time and completely healthy, could not be our daughter. I assume she meant I could not be the father. This has caused problems ever since. After researching the condition I have found this is not the case. Is there any chance this geneticist was right? Thanks for your help. View Answer |
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2007-12-03 |
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Hi, we are the parents of a wonderful little boy born with complete agenesis of the corpus callosum and what appears to be an inverted duplication of the segment between bands 8p11.2 and 8p23.1. Both my husband and I were tested and did not have any chromosomal abnormalities. The geneticists we have consulted have been unable to give us much information on what issues could arise as a result of this exact abnormality. At 8 yrs old, he is severely delayed and does not fully walk or talk as of yet but is showing much promise and is progressing with the assistance of numerous therapies, etc... Do you have any information with regard to this specific chromosomal abnormality? Thank you. View Answer |
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2007-11-30 |
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Does Patau Syndrome (trisomy 13) affect any specific ethnic group? View Answer |
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2007-11-26 |
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My child has a genetic abnormality, chromosome 15 is not right, very rare condition, only 36 people in the world have it.She has learning difficulties and beacuse its so uncommon I think my usage of hashish during the pregnancy caused her not to be right!Can you answer me if Im right or her abnormality is a gene - chromosome type only?Can usage of kannabis make genes go wrong?Can you email me where to read more about it? View Answer |
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2007-11-21 |
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What kind of disorders come from a person having an extra chromosome, i mean 3 of the same chromosome but instead of 46 they have 47? What diseases or disorders does that cause? View Answer |
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2007-11-17 |
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I am a 34yo female. I recently had amniocentesis which revealed a fetal karyotype of 46,inv(2)(p11.2q13),
a pericentric inversion of one chromosome 2. My husband and I had chromosome blood tests done shortly after, which showed that the inversion was inherited by me.
Although I was told that inherited form (vs. de novo) of this type of inversion is a normal variant, I am wondering if there are any risks associated with it. I read a journal article that hypothesized that a random arrangement (vs recurrent) or unbalanced (vs balanced) may have bigger roles in the risk of abnormality than just looking at inherited vs de novo. I do not have information on the type of arrangement the baby has.
What are the risks of having this type of karyotype? Are there any reports of abnormalities associated with it?
Other info: no history of miscarriages, We have a 2 yo old son with no known abnormalities.
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2007-11-15 |
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I am doing a school research paper on the cri-du-chat syndrome is there anything i NEED to know? and is there anything that makes the syndrome attention grabbing? View Answer |
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2007-11-12 |
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My son was tested by a geneticist and said to have "mosaic marker syndrome" and told it was a very rare genetic disorder effecting less that 1500 of the population of the usa. I can not find any information on this. I have an appointment to follow up with my son's doctor to do more testing as it has been 3 years since his last visit. He has developmental delays, hypotonia, speech articulation issues, autisic behaviors although not autistic. He is attention deficit and has expressive language difficulties as well. He has many feeding issues as a baby, reflux, lack of independant bowl movement for the first year, delays in most areas, and is now placed in a significanlty developmentaly delayed classroom. He has extra hair on the top of his eyebrows, a swirl pattern on the crown of his hair, triangular lips, and a high palate. My concern is what to expect as he grows and develops. Do you have any information that will help me???
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2007-11-12 |
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I just moved to Atlanta from Houston and have a daughter who has a chromosome disorder. I worked with the childrens medical center in Houston however, I have no idea where to take her in Atlanta.
Can you make a suggestion on where I might go to find a great
geneticist? Any help you could give me with respect to direction
would be greatly appreciated.
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2007-11-06 |
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my question to whom can answer....well i am doing a presentation next friday in my pathophysiology class and my topic is edwards syndrome and after doing research i cant seem to find what nationality are at higher risk of receiving this disease. can you help... View Answer |
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2007-11-02 |
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Good day, my wife has had two miscarriages within three months, and we both have done karyotype and other tests. All tests for us both were normal except for the karotype test which showed a normal result for me. My wife's result showed 46XX inv (3) (p11.2q21).
We are not sure what this means and we would like to know if this would present a problem in child formation of future pregnancies. View Answer |
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2007-10-30 |
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I have a pt. that wants to be tested for cri du chat before becoming pregnant. Her sister has a child with it. What kind of test does she need? Can a script be written for factor V? thank you for the information. View Answer |
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2007-10-30 |
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I understand that 90% of infants born with trisomy 18 are likely to die with in the first 6 months. My question is HOW do they die?Heart failure? siezures ? what? View Answer |
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2007-10-27 |
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Hello I had a child with Trisomy 13. And I want to know if I decide to have another child will there be a chance that my baby will have this disorder. And is there some way that i can get tested to see if i am ok to have more children without this disorder. i want to have more children but i am scared that it might effect them and i don't want to go through that again. i have already had two children my first one was still born and my second one was a trisomy baby, so what are my chances of having a normal child(ren).
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2007-10-25 |
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I have been kartotyped as 46XXinv(8)(p11.2q11.2) after loosing a baby at 16 weeks earlier this year. My mother has been tested and does not carry this inversion. Due to family difficulties I may not be able to get my father tested. My question is does it make any difference to the chance of a successful pregnancy whether the inversion in me is de novo or familial. i.e. as my parents were easily successful in pregnancy should this give me "faith" that we can be if it is from my father. I am wondering as it will help my husband and I decide whether to persue assisted reproductive techniques. View Answer |
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2007-10-22 |
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We are parents of a female child with Trisomy 21 Down Syndrome. Neither of us had any unusual genetic history. We are also parents of a typical male child. Is he at added risk for having a Down Syndrome baby with his wife? View Answer |
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2007-10-22 |
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My 7 year old daughter has trisomy 8, short p mosaicism. We are blessed because she is intelligent but she has great difficulty reading and writing. She has also been diagnosed with ADHD that requires medication with Focalin XR 15 mg QD. Because she has a murmur and has had sinus pauses on her Holter monitor her doctors and I are very reluctant to increase her meds (even though she had great difficulty focusing on tasks).The school system is actively fighting us about providing her with assistance. I was wondering if there is any literature that describes learning difficulties or ADHD in children with this genetic anomaly. So far, I've only seen documentation of these kids being profoundly retarded or else completely normal.Thank you for your assistance. View Answer |
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2007-10-09 |
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Recently, we had genetic testing done on my 2 year old son. The testing showed: a loss in copy number on the short arm of chromosone 2, detected with 2 clones, encompassing a segment of at least 3.9 Mb in size, and confirmed by FISH analysis. The nearest adjacent clones with no copy number change are located 2.5 Mb distal and 3.4 Mb proimal to the deleted region. The doctors seem to have no idea what this means, we are at a loss, if you have any information, it would be greatly appreciated. Thank you. View Answer |
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2007-10-08 |
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My daughter is 11 years old and has a 2q chromosome deletion. I am concerned with her weight gain that has occured within the past three years. She has a short stature with a very thick and solid built. Should I consider a diet plan for her. Could her dramatic weight gain become a problem and be a health threat to her. What should I do to help minimize her weight, before it becomes a real problem in the future? I appreciate any advice you can give to help with this issue. Thanks so much for your time and help!!! One other issue she also had surgury when she was three years old, which was a tendons transfer to both her ankle regions to correct what was called a bilateral vertical talus defect. Everything seemed to be fine, but I have noticed in the last two years her ankles are now pertruding outward. She complains that her feet are hurting, especially when she walks for long periods of time. I wonder if her weight gain has something to do with the ankles pertruding. View Answer |
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2007-10-03 |
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What does it mean when a Cytogenetic analysis shows a 46,XX,Inv(3)(q21.1q25.3)? I was recently diagnosed with this. My kids will be tested soon. But the geneticist isn't sure what this means when it comes to a diagnosis. My children and I have alot of interesting symptoms and no one can seem to figure it out. View Answer |
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2007-09-20 |
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My daughter is 14yrs old and since she was 2yrs i always knew something was not quite right.She had speech delay,toileting, socialising etc, she was diagnosed Sematic pragmatic for years until June 2007. We were given a new diagnosis of Balanced pericentric inversion of 18p, karyotype no:- 46,xy,inv(18)(p11.2;q11.2). She has learning difficulties, social, emotional, challenging behaviour, autistic mannerisms, body language, expressions, very vulnerable, easily led astray,comprehension,danger awareness minimum. sleeps a lot, severe mood swings in a instant.Can you help me by telling me anything? there only seems to be one man that has had similar but no description of his behaviour, i have been researching Bipolar and i feel this fits my daughter very well, and i have read that that 18p could cause learning difficulties and behavioural problems.
I would appreciate any info at all thankyou.
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2007-09-17 |
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My son is 5 months, was diagnosed at birth with 18p deletion, we met with the geneticist the other day and were told that some of his cells are 18p deletion, some have ring 18 and some are trisomy 18. While the geneticist is great and tried to explain everything clearly I still am confused. What info can you give me on this? View Answer |
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2007-09-12 |
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My daughter 4 months old was diagnosed at birth with a 13q deletion syndrome. 12.3 through 21.1 I am confused, I was told she carries this deletion in every cell in her body and she currently has bi-lateral retinoblastoma and hypotonia and reflux. Is she missing both copies of genes located between 12.3 through 21.1 or does she have at least one copy of all the genes? Me and dad genetic test was good. They said that it happened in a single egg or sperm cell. I was wanting to know if she is at risk for other cancers or metabolic disorders in her deletion area. If she does have at least one copy can the other copy become mutated later. View Answer |
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2007-08-30 |
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My daughter 4 months old was diagnosed at birth with a 13q deletion syndrome. 12.3 through 21.1 I am confused, I was told she carries this deletion in every cell in her body and she currently has bi-lateral retinoblastoma and hypotonia and reflux. Is she missing both copies of genes located between 12.3 through 21.1 or does she have at least one copy of all the genes? Me and dad genetic test was good. They said that it happened in a single egg or sperm cell. I was wanting to know if she is at risk for other cancers or metabolic disorders in her deletion area. If she does have at least one copy can the other copy become mutated later. View Answer |
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2007-08-30 |
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My son (35) and wife (will be 35 at birthtime) are 4 months pregnant with their 1st child. They have just been informed that their ultrasound test shows trisomy 18, she is to have an amniotic test asap to confirm this and if so, an abortion. We are devastated. I have read a little on this and realise that my daughter-in-laws age is a factor but what are her chances for future pregnancies being normal or will all her pregnancies have this defect? Anything you can provide to help us understand this would be much appreciated. Thank you. View Answer |
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2007-08-24 |
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My 10 yr old daughter was diagnosed as having extra 2P chromosome while I was still pregnant with her. 1 Geneticist who saw her tried to compare her to Downs children. The 2nd Geneticist just told me that there were other children who shared the same chromosome disorder as her. My daughter is delevopmentally delayed, just started walking on her own back in May, and has focal epilepsy. Not sure the epilepsy is due to her disorder or not. She is not potty trained and does not talk like a regular child. She only says a few words and learning sign language is questionable because she has a sensitivity issue and does not like her hands messed with. All I would like to know is if you are able to give me a life expectancy for her and if she'll ever be able to do things on her own. Also better explain her chromosome disorder to me. View Answer |
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2007-08-23 |
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My daughter has an interstitial deletion of the short arm of chromosome 8, such that segement 8p21.1 to 8p21.3 is deleted - 46,XX,del (8) (p21.1p21.3)[15] She has mild-medium developmental delays as is usual with this genetic anomaly. She also exhibits many of the symptoms of PDD-NOS (in a questionaiire showing mild-medium PDD-NOS)however her paediatrician argues that many if not all of these charectistics can be put down to her "intellectual difficulties" resulting from her genetic anomaly and not PDD-NOS. This has a significant impact as a diagnosis of PDD-NOS results in quite a lot more funding for OT and Speech therapy for her in Australia.I'm a bit confused because I thought that PDD-NOS was a criteria of behaviours regardless of what the underlying cause of the behaviours were and that it has been proven that there is a likely link between genetic anomalies and PDD-NOS behaviours.Can you shed some light on what the current thinking is in this area? View Answer |
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2007-08-22 |
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I have a 2 yr old with Trisomy 21 translocation21:21. My husband and I were tested and are not carriers of the gene. I am 28 yrs old and just had a second child with Trisomy 21. Her Fish results were: nuc ish 21q22.13-q22.2(D21s59/d21s342/3) Abnormal Hybridization pattern. 2 questions: Does this fish tell us what chromosome the translocation is on? Can genetic testing be wrong and not always show when the gene is present? View Answer |
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2007-08-15 |
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Our 22 month old child was referred to a geneticist because of her slow development and growth. She was 20 months before she started walking and is still very small (about 21 pounds) for her age. At one year, she weighed 16 pounds 12 ounces. The geneticist wants to test my husband and I because the blood test showed that she had "extra material on chromosome #2". I have been trying to find information on the Internet and the lack of it makes me think that it's not a cause for concern. What can you tell me about extra material and chromosome 2? View Answer |
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2007-08-09 |
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In 1996 through amniocentisis we were given the following report from the perinatal Center in Minneapolis. "The Y chromosome is what we call an isodicentric chromosome, which in this case implies that the chromosome is composed of a short arm and a centromere of a chromosome and a normal Y down to band q11.22. At that point, the remainder of the chromosome is deleted, and in its place is a mirror image of the above. in effect, the Y chromosme is duplicated from the p-terminus to q11.22, and is deleted from q11.22 to the q-terminus" We were told fertility may be an issue for him. My son is now 11 and is much like other boys his age. He is however of short stature and he also struggles in school especially in reading and spelling. (But is of "normal" inteligence) Do you know of others with a similar defect and what might you know now that they didn't know then? View Answer |
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2007-08-05 |
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Our infant has down syndrome. The results didn't mention which type. The three of us are going for a genetics test. I would like to know exactly how we will be tested. Will they take our blood - my husband and I do not have DS- or do they use our reproductive cells to determine if we passed this trait to our baby?
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2007-07-06 |
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What does extra material on Chromosome 11 mean? View Answer |
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2007-06-27 |
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Hi My cousin is a 11yr old boy with Down Syndrome. His family have been advised by someone about the use of Stem cell therapy as a possibilty of improving his condition. Im concerened about this working..please advise View Answer |
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2007-06-21 |
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I gave birth to a child & lost her at birth due to Trisomy 13. This was back in 1994. (Previously I had 2 normal children. ) Anyway, the dr. then thought this was all the womans fault & had bad eggs if she was pregnant & this occured. Is there any test to tell me if my eggs are ok ? if I were to remarry, I wouldn't want to risk loosing another child if it was do to me having old eggs. Named the baby Angelic. Ex made me trow out the photos of her, and also dispose of her cremains, & i still grieve over her sometime, even thou I had her scattered at a lake with swans. Know the photo's were of a red mess, but it was my baby. Searching for awnswers. View Answer |
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2007-06-17 |
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I have a friend with a child that the doctors said was born with condition that is the opposite of Down Syndrom. Is there such a condition and what is it called? View Answer |
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2007-06-11 |
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Hello, I am a mother of a down's child(32 yrs old) with trisomy 21 type of down's. Both my father and mother passed away from complications from Alzheimer's. I know this greatly increases my chances but was wondering just how great my chances are and if in fact I can do anything to prevent it. View Answer |
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2007-06-07 |
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We are in search of information for a deletion in chromosome 2q, with the breakpoint at 1.3. We were told that it is very rare. What is known of the documented case(s)? View Answer |
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2007-06-07 |
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I am 35 years old and have one healthy 3 year old boy. I became pregnant again earlier this year. At 20 weeks gestation, an ultrasound identified physical attributes associated with Trisomy 13. This was later confirmed by amnio [full results, not just FISH]. The pregnancy was terminated. We were initially told by one doctor that my husband and I needed to be tested to determine if the Trisomy 13 was a Translocation and one of us could be an "unaffected carrier", and that we could measure our future risk with full karyotyping.Later, another Dr. told us that the results of the amnio alone were able to identify this as "full" Trisomy 13 and we are not at increased future risk. From my own research, I had gotten the impression that "full" meant "full expression" as in, not MOSAIC trisomy. I understood this to be an issue that is independant of whether the trisomy was transolcation and thus a possible genetic trait. When I asked which he meant, he seemed vague as to the distinction. Bottom line question is, can our future risk be determined by the results of that amnio alone, or must both parents be tested? If so, is it best to have those amnio results reviewed by a geneticist rather than a perinatal specialist or OBGYN before trying to conceive again? View Answer |
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2007-05-19 |
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Is there a connection or potentail for a Downs Adult to have Prader Willi together? If so what is the rate of incidence and at what age would the symptoms occur? Our daughter is a 23 Downs adult that has recently shown a substantial increse in weight over the past 2 years along with a tendency to binge eat. View Answer |
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2007-05-19 |
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dear sir, I'm a neonatologist. I examined a female nreonate 24 hours after delivery. I found some features of down syndrome like semian crease, almond shaped palpebral fissure, clinodactyly and depressed nasal bridge.karyotyping comes normal.can some clinical features of Down syndrome occur in normal individuals?
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2007-05-09 |
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On Wednesday, April 25, 2007, while at my monthly office visit, my doctor was unable to locate or hear my baby's heartbeat. On that same day, I was given an ultrasound. The ultrasound confirmed that my unborn child had no heartbeat or fetal movement. On Saturday, April 28, 2007, I was hospitalized, and a DNC was performed. On Wednesday, May 2, 2007, I was informed of the results from the Triple Screen that was done, which made me aware that my baby tested positive for Trisomy 18. Should my husband and I have genetic testing before we try to get pregnant again?
How likely is this to occur again? View Answer |
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2007-05-02 |
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i had my son downsyndrome ,because of trisomy of 14/21
now he is no more
my wife have two months pregnacy what are treatment &precautions View Answer |
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2007-05-02 |
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Since my daughter was a few weeks old she appeared to me to have some facial features characteristic w/ Down Syndrome...wide, flat nasal bridge, upward slanting, almond shaped eyes, a very long, protruding tongue with mouth always hanging open and down-turned lower lip, short arms and legs, a gap between 1st & 2nd toe, and mild low trunk tone. A chromosome analysis was done at 4 mos. w/ 20 cells counted, 7 analyzed, 4 karotyped, and results were Normal Female. Still, she just looks "different" to me and very similar to photos of DS children. After doing research I came across info on mosaic DS. She is now 9 mos old, has met all her milestones on-time or early and is not developmentally delayed (yet) with the exception of very little babbling. We recently saw a geneticist to talk about the possibility of mosaic DS. She was VERY RUDE to us, immediately said our daughter did not have a mosaic condition, hardly even examined her and said "so what if she is mosaic, it's not going to matter". We insisted on testing. The results just came back NORMAL. However, a Signature Genomic microarray analysis was done. After doing research on this it seems that a microarray DOES NOT detect mosaicisms, rather micro additions/deletions, and that a FISH test, through the 100th cell line should have been done. As we want to be sure the proper tests were conducted and we can move on, can you please advise on whether we should see another geneticist & pursue detailed FISH testing, or if a microarry would in fact pick up a low-order mosaicism. Also, if she DOES have a low-order mosaism can it have major impact (mental retardation) on her life, unlike the geneticist indicated? Finally, is it possible to have the above listed signs of DS and NOT have any sort of genetic condition?? THANK YOU in advance View Answer |
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2007-04-30 |
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I'm doing a project for biology class and i was wondering if you could ansrew a question. What current research ids being done for Patau syndrome? View Answer |
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2007-03-29 |
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My adopted nephew has a chromosome abnormality which states that chromosome 5 is rearranged. This was from his blood work and the doctor could not give any information to the parents. What does this mean? He is also diagnosed with a mild form of closed lip schizencephaly. The doctor urged his parents to see a geneticist for that diagnosis also. I cannot find any information. View Answer |
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2007-03-26 |
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we are trying find out what exactly is wrong with our son. He has had several test ran and this time when they done the chromosome test it came back saying that he had extra material on his long arm chromosome 3 and I am trying to find information on it and I am unable to find anything. When I went into the gentic home reference website I was able to pull up 3-methylarotonyl-coezyme a carboxylase deficiency and he does has some of the side affects as : poor eating, no wieght gain, small head, vomitting, speech delay. I was just tryin to see if you had any other suggestion.I do have the blood work avabile if you need any of that information, I am just trying to find out why my son can go for 10 days without eating. he is 3 weighs 26 lbs and 36 inches tall. If you have any information that you might be able to give please send it. View Answer |
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2007-03-21 |
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What is the incidence of Trisomy 18 in a first degree relative with a prior diagnosis? My sister lost her first baby to Trisomy 18 at the age of 26. She is now pregnant again at 27 and all is well. I am 31 and have a healthy 5 year old son and am now 11 weeks pregnant with my second. What exactly are my odds? thanks! View Answer |
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2007-03-13 |
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Hello, In 1980 when I was born, my parents were told I have a Partial Monosomy of Chromosome 21. I am trying to find infromation on this condition which explains exactly what it is and the effects it could have in the future and also how likely is it that any children I have in the furture could be born with the Partial Monosomy of Chromosome 21. My parents both had chromosome studies done on themselves when I was born and theirs came back normal. I am the only person in my family with this condition. Also, I am doing a research paper on this topic for my class in college. I'm finding that my condition is very rare and very difficult to find information on. Any help you could give me is appreciated. Thank You!! View Answer |
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2007-03-08 |
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My son (3yrs) has been diagnosed with chromosome 3q duplication syndrome, I havent been able to find much info about it. What type of life expectancy do children with this have, how many people in the world have this syndrome approx, because I havent been able to find a support group. Any info would be appreciated. View Answer |
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2007-03-08 |
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I would like to know if Williams Syndrome is only in people with a deletion of chromosome 7? My daughter has a duplication of chromosome 7, but I see some of the same symptoms in her. I have never found a Dr. that can give me very much information about her chromosome disorder. I was told that she had partial trisomy 7 q22-q31. I would appreciate any information that anyone can give me. View Answer |
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2007-03-06 |
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If a child has a chromosome disorder, what is the likelihood for hypotonia? Would it be an expected condition for someone diagnosed with trisomy 18? View Answer |
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2007-03-01 |
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i have a question, im 23yrs old i have two kids. my thirth pregnancy was diagnosed at 5mths with down syndrome 21, asd/vsd heart defect, i had a still birth. what i know of only my husbands sister has ds. in our family. i just had a miscarriage 1 wk ago which was my fourth pregnancy. i was diagnosed with blighted ovum. what are my chances of having a healthy baby? any advice View Answer |
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2007-02-22 |
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Recently my newborn Cousin was diagnosed with having a deletion of 9p and a duplication of 8q chromosome syndrome. What is the outcome of these anomolies? Is there a syndrome name for either of these or a name for both combined? He was born preemie. We discovered that he has 2 holes in his heart and now there is a problem with his aorta. Any suggestions I can give to my family members? They live in Macon, GA. I have been searching for a specialist that can answer some of their many questions about their baby. Anything you could provide would be very helpful. Thank you for your time. View Answer |
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2007-02-21 |
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I have one healthy son. In 10/06 I terminated a pregnancy after CVS testing came back + for T21. I was told I was not at an increased risk for this to happen again. I have seen conflicting information on the web. This was not a translocation. Am I at an increased risk for a reoccurence of T21? I am also + for MTHFR (1298). Does this increase your risk for T21?
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2007-02-09 |
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I was a healthy 25 year woman but when I was 4 months pregnant with my daughter in 1997 she was diagnosed with having chromosome 18. I was told that she could possibly survive until 7 months during my pregnancy with severe deformities or she could make it full term but not be able to survive after birth. Well she defied all odds. She is now a healthy 9 year old. Although she is faced with developmental delays in school. We are grateful to have her with us. My question is could this have played a part in her developmental delays? View Answer |
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2007-02-09 |
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If a small baby in the 19 percentile could be indicative (or possibility) of Down syndrome View Answer |
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2007-02-07 |
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Are there currently ways to fight against trisomy 13? I know that this syndrome is mostly not inherited, but is there a way to prevent cells to make extra copies of a chromosome? View Answer |
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2007-02-01 |
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I am wondering if there is anyone famous with cri du chat syndrome. i was also wondering about how the disease was first discoverd and if doctors are close to a cure. thank you.
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2007-01-23 |
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When pregnant with our [now] 11 month old daughter, CVS for advanced maternal age (45) showed trisomy 5 (in all cells). Amnio results normal 46xx (all cells). We decided not to pursue testing for UPD during the pregnancy. Baby is healthy and developing normally. Geneticist (MD)checked the baby at age 6 months and suggested deciding about further testing at age 1 year. She did not express a strong opinion about whether there was much to be gained by UPD testing, and indicated that the decision was basically up to us. We have a follow up appointment in a few weeks. Would UPD testing at this point give any useful information? What do you generally recommend in these situations? View Answer |
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2007-01-21 |
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Hello, At age 18, I gave birth to a child with Down's Syndrome. I was tested after the birth of my son to see if I was a carrier, and the tests came back negative. Since then I have not had any children and I am now 31. Do I have an increased risk now of having another Down's Syndrome child, as I would like to consider having more children.
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2007-01-15 |
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how can i know if my baby is down syndrome View Answer |
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2007-01-13 |
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I have a sweet and delighful daughter with Down Syndrome. My question has to do with her hair color. :) She was born with a head full of dark brown- black hair. At 16 months her hair is literally two different colors. It is a pale white blond ish with the original dark brown/black tips ! It was so noticable before her hair cut that a woman once accused me of having it dyed! Could you give me a brief explanation of genetics an d hair color? esp when hair color changes so radically and so quickly. I doubt it has to do with the DX of DS but could it? If hair color is determined by genetics.. how did that change suddenly happen?Both her father and I were born bald.. got light hair and ended up with red brown for the Husband, and dark ash brown for myself. I can see the change over the years/decades.. but this change in hair color was dramatic and rather sudden. The indiviual hairs look like a blonde who had their pony tail dipped in ink. NO transition in color.We have five other children who all have had steady hair colors in the blonde to brown range. None of them have had any change in hair color out side of the standard darkening with age. View Answer |
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2007-01-11 |
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I have a child with Down Syndrome. But that is only part of my question. Is is possible for a child with Down Syndrome to have other Genetic Disorders such as Prater Willi Syndrome? Or Arginase deficincy? I can understand genetic predispositions such as a higher incidence of diabetes etc. But is it possible to have one or more abnormalities that are actually that large scale? View Answer |
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2007-01-10 |
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My father's aunt, his mother's sister was born with Down Syndrom (not sure which type) and died at about age 7. She would have been born around 1927. I am 37 years old and I am thinking about having a baby by age 39. I have a 16 year old son, born healthy w/no long term health issues, and my husband to be is 39, a diabetic and has 4 childres ages 7 - 17 all healthy w/no long term health issues. I am aware that the older we get the high the risk of a down syndrome baby, but for our situation is the risk higher because of my family background? Thank you in advance for taking the time to review and answer my question. View Answer |
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2007-01-08 |
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I am going to be 37 in August. My first child is a healthy 6 yr girl . My second child had a trisomy 21 (I was 36 when pregnant) and had passed away. Is it possible for me to have another healthy child if I get pregnant right away. How soon can I have a genetic test to check if my baby is OK, and how accurate it can be? My mother also had a child with trisomy 21 when she was around 40. Is it possible that I also carry some genetic abnormality? However, other sisters and brothers are healthy and all have children with normal chromosome, although one had a child when she was 37. Should I have my genetic test to confirm my health condition?
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2007-01-06 |
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Since the extra 21 is acquired during formation of eggs, while mother is still in utero, why would increasing age of the mother increase risk of one of those eggs maturing? View Answer |
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2007-01-04 |
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A friend of mine found that her baby had 40% of the cells from the amnio mosaic for deleted chromosome 20 (complete deletion, not a short or long arm) as well as some of the chromosome 20 cells being ringed, but missing no genetic material, as far as they could tell She terminated the pregnancy. Do you have any idea what the outcome may have been? View Answer |
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2006-12-23 |
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I am doing a report on cri-du-chat syndrome. I had one question that I could not seem to find the answer to. Does this syndrome attack any certain systems? Thanks a lot for your help. View Answer |
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2006-12-18 |
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I have a son with Down Syndrome who is now 22. I had him when I was 28. My daughter who is 26 is thinking about getting pregnant, what are the implications for her? Does she have an increased risk? Should she have genetic counseling? If so how do you go about finding a good geneticst? Thank-you for any information. View Answer |
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2006-12-14 |
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My wife has a half brother with down syndrome. He has the most common type of downs. My wife and I are now pregnant and I am worried about the chances of our future child having down syndrome. My wife and her half brother only share the same mother. Can it be passed along generations? Should we get some tests done? View Answer |
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2006-12-10 |
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My daughter, age 28, had a chocolate cyst rupture. Surgery followed immediately and it was discovered that she had a serious case of endometriosis. Within a few weeks of the surgery, she became pregnant. The baby was born with trisomy 13 syndrome. Could the surgery have effected the egg or caused it to malfunction when the chromosomes divided? Has endometriosis ever been connected to birth defects such as trisomy 13? View Answer |
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2006-12-04 |
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Hello,If human females have produced all of their eggs by the time of their birth, and no more meiotic events occur, why does the incidence of Down Syndrome increase with age? If I understand it correctly, the only plausible explanation must be that eggs with an extra Chromosome 21 have a higher longevity than those with the normal single set of 23 chromosomes. I thank you in advance for your answer. View Answer |
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2006-11-30 |
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I have three children, a 19 year old daughter and two boys that were born with trisomy 21. I was 37 when the first son was born and 40 when the last was born. I was told that Trisomy 21 is not genetically passed on from either parent. Is this correct? Should I get tested to see if I carry the balanced translocation? My daughter says it doesn't matter, but I would like to know for her. Also, The my older boy, 12, also has Autism with the Down Syndrome, should I get tested to see if I carry Fragile X sydrome, he doesn't have it. My cousin also has a son with Asperger's Sydrome. We have several mental disorders the same side of my mom's family. Split personality (my cousin's brother), I forget the name of the disorder. View Answer |
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2006-11-29 |
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I'm 36, my second baby, just being terminated, is 47XY+21. My youngest brother also trisomy 21. (My mom was 42 when having him), but I'm normal. Is it possible that I'm the carrier of the translocation down sydrome? Can I have myself checked? Am I able to have another normal baby, at what percentage? If I'm pragnant again, how soon I can check if my baby is OK? View Answer |
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2006-11-29 |
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hi,why complete trisomy 13 is much more defective than partial trisomy 13?thx View Answer |
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2006-11-19 |
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What goes wrong in meiosis that would made a person have 47 chromosomes? View Answer |
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2006-11-17 |
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I'm 23 years old. Six weeks ago I gave a birth to a baby girl - she was born still at 36 weeks. Tests showed that she had duplication of the long arm of chromosome 15, which can be seen in Prader-Willi Syndrome. I have a few questions: Could that be a cause of her death? How big is the chance to have another child with that chromosome 15 duplication?
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2006-11-09 |
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I have read that full trisomy 13 and other trisomies are generally caused by a problem with an unhealthy egg at the time of conception. It is unusual for the sperm to be defective as unhealthy sperm do not make it to the egg. My daugher gave birth to her first baby a couple of months ago. She is 29, healthy, in excellent physical condition, and was told that everything, including the baby, was fine during her easy, 34-week pregancy. The baby was shockingly a full trisomy 13. Both her and her husband genetic tests show that trisomy is not carried by either of them.She has been told that the odds of having another trisomy baby is very low, but is it possible that the chomosome issue came from her egg and that all of her eggs would have the imperfection and produce the same result or would this be detected by genetic testing? View Answer |
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2006-11-03 |
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My first born is normal (a boy), my second child (a girl) was diagnosed with edward's syndrome & had lived 1 week only from birth. What's my chance of having another normal child & what test should me & my husband undergo to confirm if one of us is the carrier of the genetic disorder? View Answer |
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2006-11-03 |
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I have a 32y/o brother with cri du chat. My wife and I are considering having a baby and I am interested in whether the sydrome can be possibly passed on. I have read on different websites that it can and cannot be passed on, and would like a clear answer or some advice on what we should do.
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2006-11-01 |
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I am a 37 yr old mother of three daughters. My oldest (17yrs) has a different father and is fine. My 5yr old has Turner?s syndrome and my 3yr old has Down?s syndrome. My husband and I have had all the testing done after our 5 yr old was born with Turner?s syndrome. They found nothing wrong with either of us. In fact, they said we hit the lottery. When our youngest was born, they said we hit the lottery twice. They can give us no explanation besides the standard. The genetics doctors explained to us that this has happened to no other people in the world. The genetics doctors told us that our risks were VERY small for reoccurrence due the chromosome study they did shortly after our middle child with Turner?s was born. After our third child was born, we never got a return phone call from any of the genetic doctors. The only thing any of them can say is because we had these children with Down?s and Turner?s the risk are greater but it has nothing to due with our genetic makeup. My question is what caused this to happen if my husband and I have no chromosome abnormalities. What is the risk of this happening again? Do you know of this anywhere else in the world? We are encouraged by doctors to try again. Out side the normal risk, we should be fine. As a mother, I cannot abort a child and do not want to be faced with something worse. I have been extremely fortunate and blessed with my children so far. View Answer |
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2006-10-30 |
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Hi there, I am 25 years old and am 11 weeks pregnant. I have an older sister of 29. We are both fit and healthy. I found out today that my mum had another child, who will now be 31, nd that this child has Downs Syndrome.Can you tell me if this condition is hereditory and am I at a greater risk ?Any help would be appreciated. Many thanks.
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2006-10-22 |
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Hi: I thought there was new research that had determined that in addition to the woman's (older) age, a man's (older) age contributed to the higher risk of having a child with Down's Syndrome. I can not find the article. Do you know where I can look at it or let me know if it has been determined to be true & the rate of percent the risk increases? View Answer |
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2006-10-19 |
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i was wondering if environmental factors (such as diet,exercise,exposure to sun, where the person grows up) affect the severity of cri du chat syndrome. Do you know of any environmental factors that do affect the syndrome?
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2006-10-03 |
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My son has a paracentric inversion in the distal long arm of his X chromosome. A lab sample, I believe it was blood, was sent to you for research some years ago(maybe 7 yrs.). Dr. David B. Domek was his genetisist. Dr.D explained to me at that time that the genome project was not yet finished and he could not explain to me exactly what this diagnosis meant for my son. Jacob is now 12 yr.s of age and continues to deteriorate. Noone has been able to tell me if this is due to his chromosomal abnormality(Dr. Domek always assumed but could not say for certain) or something else. Jake has been terribly ill most of his life but his condition is only getting worse. I guess my question would be... is there any new information that may help my son?? Any new information that may give me a definite diagnosis or explanation of some sort?? I have taken a break from searching for something for quite a while now, I guess in hopes that in time, something new with give us more info. I know that I have been told that we may very well be looking @ Jacobs Disease, but it is difficult for me to believe that noone else has seen this particular inversion or can tell me any more about it and what it means for my son. Please write back. Thank you so much for your time. View Answer |
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2006-10-01 |
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My 36 year old daughter gave birth to a little girl that had Trisomy 18. She passed away this past Tuesday. She was 1 month, 3 days old. This was her first child and my first grandchild. My question is this: how likely is it that if she should get pregnant again, would this child have a chromosone disorder? I don't think anyone in this family could go through losing another child. It took her a year on fertility pills to get pregnant. This is just something that I would kinda like to know the odds of it happening again. View Answer |
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2006-09-27 |
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Hi, I have a couple of questions about Down Syndrome:
Is there any direct relation between Alzheimer and Down Syndrome? and why do people with Down Syndrome tend to develop Alzheimer when they are very young? View Answer |
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2006-09-13 |
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My daughter is a partial trisomy 13 mosaic. I have a translocated 24/25 chromasome on all of my cells . In reading the heredity issues I understood it to say that the translocation needs to be between 13 and another chromasome. Is it possible for my translocation to affect her trisomy 13? View Answer |
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2006-09-13 |
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Family memeber is 20 weeks pregnant andt he baby has heart conditions. But was tested for Down and Degeorge both negative, however the baby is missing chromosome 19. What does it mean and what can it lead to? Thank you for your help View Answer |
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2006-09-09 |
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I delivered a baby girl on August 12, 2006 at 27.6 weeks gestation. She did not survive. The pediatrician thinks she may have Trisomy 13. Blood was drawn from both parents and sent to Little Rock for genetic testing. My question is if one of us carries the mutation, what are the chances this will happen again? Reading on the internet, all I can find is the chance is increased but it doesnt say increased by how much. We feel completely lost and feel like we know nothing. Answering this question would be extremely helpful. View Answer |
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2006-08-18 |
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I have a six month old son that has been diagnosed with Down Syndrome (Trisomy 21.) Is there a chance that it can still be Translocation or Mosiac? We have not been to a geneticist yet, and the original test that was done was the FISH test. View Answer |
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2006-08-18 |
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My daughter was diagnosed with a partial duplication of chromosome 2p. We have taken her to a geneticist but were told that her condition is very rare and they did not have much information on it. Can you give me any info or advise where to research? Thanks! View Answer |
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2006-08-18 |
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I was trying to get my son some additional help in school and needed a doctors diagnosos. I went to an O.T and Neurologist suggested by his primary doctor to be evaluated. My son has taken a mri which came back fine. My son also has taken a blood test and was advised by the neurology dept. to get genetic testing of my husband and my blood . The reason is my son (8 yrs.old) has had some developmental delays in learning, along with verbal apraxia.The fraglie x test came back normal but there was an extra dark stripped band on chromosome 3. What could this mean? Could it be the cause of his delayed learning? And is it necessary to go thru more testing? I know he will have a challenge in school sometimes, but is it necessart to see a geneticist? View Answer |
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2006-07-20 |
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I am 28 years old and 3 months pregnant with my first child. My mother had a child with Trisomy 18 when she was 28 years old. Is this condition hereditary? Am I at a higher risk of having a child with this condition?
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2006-07-18 |
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At age 24 I had chromosone testing done due to several miscarriages to try to determine the cause. Al I was told is that I have a slight abnormality in my number 9 chromosone. I was never given any other information or what this may be linked to. I have searched and never found any answers. Is there information available on what this abnormality may be linked to such as a predisposition to certain cancers or hereditary diseases. View Answer |
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2006-07-06 |
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I am 28 years old and 10 weeks pregnant. My mother had her third child at age 28. The baby was a down syndrome baby. My mother had her fourth child at age 33, a healthy baby. Since my mother had a down syndrome baby, am I at a higher risk for having a down syndrome baby as well?
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2006-07-06 |
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I have a daughter who just turned 5 yrs old. She is a trisomy 13 mosaic. Two years ago she had an atrial sept defect repaired after which she started to put on weight from 24 lbs to 32 lbs. Her weight was up to 34 lbs and all of a sudden she does not want to eat only drink. She has lost 2 lbs in the last two weeks. I thought maybe her bowels so have been working on that area. She is growing taller but losing weight all of a sudden. My question is if you have any ideas? Does cancer connect with trisomy 13? View Answer |
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2006-07-02 |
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A daughter was born with (1) transient newborn tachypnea, (2) large ASD discovered on the ECHO. (3) CT Scan on the brain was done due to cephalhematoma. CT san showed posterior parietal cephalhematoma with no supratenteriol surface collection. (4) normal TSH and free T4 (5)chromosomal karyotyping analysis was 46XX del 18q22. Is this problem will associated with mental defect? What is your recommendation especialy for further pregnancy? View Answer |
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2006-06-25 |
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Why are women with Down's syndrome fertile, but men not? View Answer |
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2006-06-02 |
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I have a paracentric inversion on the long arm of chromosome 5, my mother and siblings also have this mutation. None of us are affected in any way by the mutation but I am told that I run a high risk of miscarriage and any child I have could be severely disabled. I am 8 weeks pregnant and have been advised to have an amniocentisis to determine if my baby also has the mutation and if so have been advised to terminate because of the risk of profound disability. My question is-if the embryo has exactly the same mutation as I do then surely the risk of disability has to be minute because it has created no adverse effects in myself, my siblings or my mother. View Answer |
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2006-05-24 |
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My sister is 6 mths pregnant and has just found out that her baby has Edwards syndrome. What would you recommend happens next? View Answer |
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2006-05-18 |
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my partner had a child with a previous girlfriend with 1p36 chromosone division what is this and is our unborn child at risk of having the same, also can it be diagnosed during pregnancy?
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2006-05-09 |
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I'm 19 and pregnant with my first baby. My mother has a half-sister(same mother) who has down syndrome. I want to know if I have an increased risk for having a baby with down syndrome as well. I have heard mixed messages about it being genetic and downs seems to run in my mothers family, so would that put me at increased risk for carrying the gene?(although the other downs person is my mother's step-father's sisters' son) View Answer |
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2006-05-08 |
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what are the major health implications for who has cri du chat? View Answer |
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2006-05-03 |
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Hello, I had a fetal demise at 18 weeks gestation. Genetic testing was done on the fetus and resulted in normal chromosomes. However there were physical characteristics that hinted at a possible gene problem. The charachteristics of the fetus were as follows: Protruding yes ( the eyes were open- which I thought was odd at 18 weeks) , small chin, v-shaped palate, low set ears, club foot, cleft lip and possible rotated extremities which made suspect to a underlying gentis condition. Fetus was small for gestation.
Genetic testing was done on my husband and I. I was found to have an inversion on my 9th chromosome and a mosaic karyotype (47xxx,inv(9)(p11q12){2}(46,xx,(9)(p11q12){58}). My inversion on the 9th chromosome was not stated to be of significance.
We are going to have IVF done with PGD testing. Testing is being done for chromosome abnormalties and to look for an extra x. The chromosome testing done on the fetus was normal and was for sure the fetuses chromosomes due to none of the chromosomes having my characteristics.
I would like you opinion on what possible syndrome the fetus may have had and what I can do to test for it during PGD. I suspect treacherscollins syndrome due to characteristics. I am very nervous about going thru IVF and am trying to be responsible in doing everything in my power to not have this happen again and have a healthy child. Please give me some insight and help. Your opinion is very important because all of this is really difficult to process and make an informed decission. It will be so appreciated !!! View Answer |
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2006-04-28 |
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Hello-my son & I have an odd Gene, detected when Genetics Associates of NC-Medical Genetics Center (120 Conner Drive, Suite 201, Chapel Hill, NC 27514) performed a check on an my amniotic fluid (while pregnant) on 11-22-89. The medical terminology is: 46,XY,inv.(10)(p11.2;q11.2). They told us it was an inversion of chromosone 10 and they had no explanation, however, since I had it along with my child, they didn't think it posed any risk of problems. My son is now a happy, healthy teenager, but we're still curious about what this means - do you have any info on it? My mother was from Germany and died in 1999 of amyloisosis, so I always worry that we will end up with that. Thank you. View Answer |
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2006-04-22 |
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hello,i am Fiorenza and i am italian. I search information for very rare patology for children age 4: interstitial deletion long arm chromosome 2 q36.3-q37.1 karyotype: 46,XY,ish del (
2)(pter-q36.2::q37.2-qter)(D2S339+,D2S351-,D2S396-,AFM324vc9+). Have you information for me? Thank! View Answer |
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2006-04-20 |
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What causes the different severities in downs syndrone?
there are 3 DS students at my school and i was curious as to why they are so different in their ablilties. View Answer |
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2006-04-11 |
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Why is it that human embryos with three copies of chromosome 1 (ie 1 extra copy of chromosome 1) die, yet adults with an extra Y-chromosome are perfectly healthy? View Answer |
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2006-04-11 |
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Hi, I am a year 10 student. I am doing a report on Down Syndrom but i cant seem to find specific genetic infromation. Maybe you can help. I need to know the what the genotype of a person suffering from Down Syndrome is. also what is the allele relationship.
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2006-04-08 |
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My husband and I are considering starting a family. Because I am 33, we are somewhat concerned about Down Syndrome. My husband had an uncle on his mother's side with Down Syndrome. Could this increase our chances for any type of Down Syndrome?
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2006-04-07 |
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Please explain what is chromosone 20. I have a pt that has trisomy 20. View Answer |
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2006-04-03 |
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What type of genetic mutation Is Down syndrome? Can DS be fatal?
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2006-03-28 |
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We just discovered that our adopted daughter has "extra material" on the short arm of chromosone 9. We are awaiting further information, but in the meantime I wonder is chromosone 9 has any special significance? Our daughter is 3 1/2 and has experienced developemntal delays thus far. View Answer |
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2006-03-27 |
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I am 39 years old. I have a healthy 18 year old son and a healthy 7 year old son. I just had my third son who was stillborn. He had trisomy 18. We are heartbroken and was wondering what our risk would be of having another child with trisomy 18 or any other chromosome disorder. I will be at least 40 at the time of delivery if I am able to get pregnant right away.
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2006-03-25 |
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How can Down's Syndrome be prevented?
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2006-03-20 |
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Is Down syndrome Dominant Or Recessive? View Answer |
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2006-03-20 |
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At 15.5 weeks of pregnancy I had an amniocentesis. I was told we had a normal male child over the phone. After our son was born I found paperwork from the testing and have some questions about it. It says "in 14 cells out of 14 colonies and 3 independent cultures a male chromosome complement unremarkable for numerical chromosome anomalies." It goes on to say "3 cells out of 1 colony showed a male chromosome complement with an additional ring chromosome. In 2 cells out of the same colony a numerical normal male karyotype was found. The chromosomal orgin of the ring chromosome remains unclear." "An extensive work up was performed - in 28 cells of 28 colonies no other cells with an additional ring chromosome were observd. " It also says "these findings represent a Level II Mosaicism." What is Level II Mosaicism? Are there any developmental delays associated with having the additional ring? My son will be 2 in one month and only speaks about 25 words but has a high receptive language capability. This is his only delay and we've been told it may be a neurological motor planning problem. Any connection to the above findings? View Answer |
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2006-03-17 |
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what is the life expectancy of a person who has Cri-du-chat syndrome? View Answer |
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2006-03-04 |
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Can a person with trisomy 13 have children? View Answer |
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2006-02-28 |
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MY DAUGHTER IS 3 YEARS OLD. SIX MONTHS AGO SHE HAD NUMEROUS TESTS DONE DUE TO LANGUAGE AND SOCIAL IMPAIRMENT. THE CHROMOSOME TEST SHOWED AN ABNORMAL #9.
46XX (9) INV (32q34.1q). WE THE PARENTS DO NOT DISPLAY THIS ABNORMAL GENE. ALONG WITH THIS ABNORMALITY I WAS TOLD SHE HAS AUTISM. I DO NOT FEEL THE TWO ARE LINKED AND DO NOT AGREE WITH THE DIAGNOSIS OF AUTISM. I DO HOWEVER THINK THAT HER IMPAIRMENTS ARE DUE TO HER CHROMOSOME. HER PHYSICAL APPEARANCE IS PERFECT. THE PROBLEMS ARE ALL NEUROLOGICAL.
I HAVE SPOKEN TO NUMEROUS DOCTORS INCLUDING A WELL KNOWN GENETSIS IN MIAMI. KNOW ONE SEEMS TO KNOW WHAT THE CHROMOSOME #9 IS. THE GENETSIS IN MIAMI HAD ONE EXAMPLE, HOWEVER IT WAS NOT QUIT THE SAME q READING. THEREFORE IS OF NO USE. A NEUROLOGIST AT THE DAN MARINO CENTER IN MIAMI.? THE #9 HAS BEEN SEEN IN AUTISM BUT NOT YET PROVEN. I AM EXTREMELY CONCERNED AND DESPERATE FOR ANWSERS. I REALLY NEED YOUR HELP IN FINDING OUT WHAT THE #9 MEANS AND IF ANYONE ELSE HAS IT. I NEED TO KNOW WHAT TO EXSPECT FOR HER FUTURE. I AM COMMITTED TO DOING EVERYTHING POSSIBLE I CAN FOR TAYLOR SO SHE CAN MEET HER MAXIMUM POTENTIAL. OTHERS THAT SEE HER KNOW THERE IS SOMETHING WRONG BUT ARE NOT CONVINCED IT IS AUTISM.
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2006-02-22 |
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what are the short and long term effects of down syndrome? View Answer |
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2006-02-14 |
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Hi. I am doing a research project on Trisomy 18 Syndrome. I can't find the following information..
Dominant or Recessive
Sex linked or autosomal
Multiple Genes
Codominant?
Incomplete Dominant?
Molecular Basis...and how it changes the DNA..
If you could email me and get me some information on that, that would be WONDERFUL.
Thanks a ton!! View Answer |
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2006-02-01 |
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my daugter has just got blood results back.
it came up as,46XX,r(22)(p?13q?13.1).ish r(22)(TUPLE1+,ARSA-, TEL22q-)[6]/46,xx[24] please help me understand this result,we are so confused,does it have a common name?please help,thank you,our daugter is 9yold.thankyou
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2006-01-31 |
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I have a 19 yr old son with downsyndrome. When he was born they did some genetic testing and said the 21st chromosone broke at sometime during the pregnancy, that it was a fluke not genetic.
My niece (my brothers daughter)Had a boy with downsyndrome 4 years age. Testing showed it was not genetic. Do you think that is correct? Just a fluke for both of us in the same family or do you think that it is genetic?
Thank you-
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2006-01-30 |
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Will i have another baby with trisomy 18 and what causes this disorder?
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2005-12-31 |
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My daughter, age ten, was diagnosed with an inverted chromosone 1. She was born lines missing from her hands, has met most all developemental milestones at a little slower pace than other kids her age. I cant seem to find anything on inverted chromosone 1...What should we expect to see with her developmentally? Socially she is very well spoken, but has hreat difficulty with thought processes and school work. Is this commonwith chromosonal inversions? Thank you.
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2005-11-07 |
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I am an occupational therapist and will be assessing a 2 year, 11 month old male with Ring 22, chromosomal abnormality. His speech delays are the parents main concern, but what can be expected in the sensory and motor areas of development? How might this condition affect his ability to learn in school? Many thanks. View Answer |
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2005-11-04 |
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my friend recently lost a child to what her dr said is '17th chromosone" what is this ...is it hereditary....and wha tis the life expectancey of achild born with this thank you so much View Answer |
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2005-10-26 |
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My Daughter is now 5 weeks old and has been diagnosed with Trisomy 9p. Karyotype 47,xx,+del(9)(q12) The entire short arm and a small portion of the long arm is present and therefore she is triploid for these regions She looks and appears normal, Although she is small for a baby her age.She is growing 30 to 40gr per day. What effect will the extra chromosome and the deletion q12 possibly have on her??? View Answer |
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2005-10-22 |
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I am trying to figure out the results of a foster child's genetic tests and have not had any luck getting an explanation.
The test results states
46,XY,ins(18;7)(q21.1;7;15q11.2)
Some of the periods and semi-colons are a little unclear.
We were told Partial Addition of 18q2. Also, we can't read the physician's handwriting but it looks as if it says abnormal chromosome 18 due to unclear extra material in long arm of 18. It also says and again it's hard to read but my guess is "every cell" "extra insertion into long arm"
We are wanting to understand what all this means or where we might find more information about this. Every case study we look at seems to be about deletions. We have found some info on additions but hear that it makes a big difference according to where and what arm. Please understand that this child really needs someone to point us in the right direction so we can do what is best to meet his needs. Thank You!!
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2005-10-20 |
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I have discovered that I have a small paracentric inversion in the long arm of chromosome (1) (q31.1q42.1). What implications does this have?, what is the "information" function of this particular number 1 chromosome?.
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2005-10-15 |
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My great nephew has been diagnosed with a chromosone 14 disorder. Possibly due to extra growth on one part of chromosone. He has a fused finger on the right hand and some joint abnormalities on th eleft foot. A six days, he received surgery for cysts in between the skull and brain.These were aspirated. The cysts were compressing some of the tissue at the top part of the brain. he has demonsatrted normal infanrt behavior. He sucks/eats well, moves all limbs and visually and auditorally tracks. he did very well in recovery and has gone home. There is some discussion of placeing a shunt to handle fluid in the skull. i have been unable to find any information on this particular set of symptoms. Can you possiblt shed some light on this or recommend some sources that a non medical person could understand? View Answer |
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2005-10-15 |
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I have a child with 22q13DS, I always find info about 22q11.2 but not any info about 22q13...is there a lot of differences in the two conditions,and I was thinking about attending a meeting at the Children's Hospital in Philadelphia in December...but again the meeting is about 22q11.2 would it be helpful for me to attend this meeting although is doesn't deal with 22q13? View Answer |
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2005-10-10 |
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MY 2 1/2 YEAR OLD HAD A CLINICAL FINDING OF CHROMOSONE #9. MY HUSBAND AND I ALSO NEED TO HAVE THE SAME BLOODWORK. CAN YOU TELL ME WHAT CHROMOSONE #9 MEANS? View Answer |
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2005-10-06 |
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Our daughter has chromosome 10 ring with deletions at the top and base of chromosome 10. What are the odds of this chromosome disorder? Also, is there any one else who has this disorder? what can we do to help our child now that we know she has this disorder? View Answer |
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2005-10-05 |
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I am a Grandmother of a mildy autistic 30 year old daughter - who has an extra bit in her 4th chromozone.She has had 3 male children all of who have the same extra bit. To find it they had to magnify to 700, that is how small it is. My query is this. 1st boy- 9yrs.-hydrocehphalus-no shunt-fine and gross motor skills. 2nd. Boy- 6 years., PDD NOS, hirschsprung disease. 3rd boy 2 1/2yrs.- hirschsprung and club feet., slight delays in gross motor skills. If they all have the same extra bit in the 4th, why is it effecting all of them differently. The boy with PDD NOS- is having a lot of trouble learning and coping with day to day life, but the other two are not so much. Any help or answers you can give would be greatly appreciated. View Answer |
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2005-09-27 |
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I had a child with Trisomy 18, 2 miscariages, and 2 healthy girls. What are my 2 healthy girls chances of having a child with a chromosomal disease? View Answer |
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2005-09-15 |
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A friend of mine had a baby 5 weeks ago. In the third week of this child's life she was diagnosed with partial trisomy 6. I understand what the medical definition is, but you can you please explain a few questions that I have? The baby was on a ventilator for the first month of her life and the doctors said once taken off, she would soon pass on. I know its only been a week since she has been taken off, but she is doing so well. She only has a feeding tube in and oxygen. What do you know about the span of life she will or could have? Also looking at her she is not deformed, her ears sit slightly lower, so what kind of effects can this disorder take on her physical appearance as she gets older? Are there any other websites that you suggest that explain the prognosis for partial trisomy 6? View Answer |
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2005-09-14 |
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After amniocentesis, my daughter has "a striated gene on the fourth chromosome." After further testing, I was found to have the exact match. The drs said not to worry. She is now four years old and developmentally well. What could the two of us share? How can I find more info? View Answer |
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2005-09-14 |
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Any information on Mosaic Trisomy 12? Training for life, problems with development, and available information? View Answer |
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2005-09-14 |
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Are there any physicians currently treating patients with trisomy 15? View Answer |
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2005-09-14 |
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Are you familiar with research pertaining to a ring 20 chromosome disorder with mosaicism? My daughter, age six, has been diagnosed as such. Very little research exists and I am trying to determine the long term prognosis of the disorder. View Answer |
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2005-09-14 |
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Boy, age 3, 46XY, diagnosed partial trisomy # 13:additional material of long arm # 13 is attached on the short arm # 3. How do I get info on this particular case? The boy has neuropsychomotor problems and does not speak. His body is perfect and he has a beautiful face. He uses medication for convulsion control. View Answer |
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2005-09-14 |
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Can you explain to me what 9p21 chromosome syndrome is and what is the easiest way to explain it to someone else? I am a friend of someone who is dealing with 9p21 chromosome syndrome and I would like to better understand what this is to help her understand it too. View Answer |
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2005-09-14 |
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Could you tell me what "paracentric inversion on the long arm of chromosome 7" means? View Answer |
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2005-09-14 |
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During a routine ultrasound @ 24 weeks, we were told ourbaby's femur was short. After subsequent genetic testing, it has beendetermined that Chromosome #3 has an inversion. Could you pleaseexplain the implications of this inversion? View Answer |
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2005-09-14 |
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During my pregnancy, I had an amnio that showed that our daughter had a marker chromosome. After blood tests for both my husband and myself, both were negative for marker chromosomes....the maternal fetal MD told us that there was no DNA that matched any other known chromosome. What does this mean and what could be the result? View Answer |
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2005-09-14 |
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Hi my daughter is 15mths old. The drs have said that she has a rare chromosone missing - Karyotype:46XX,del(3)(p25) female karyotype with apparent small distal deletion on the short arme of one chromosone 3. I know this is associated with mental and psychomotor delay etc - I would just like to know what that means for my little girl - eg. will she walk and talk or will learn to understand things I'm at a loss because up to date no-one has been able to help me or guide me to understand what this means - hoping you can help. View Answer |
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2005-09-14 |
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Hi. I'm 23 yrs old. I have 3 Healthy Lil boys. I just recently had a lil girl and she was diagnosed with Full Trisomy 18 when i was 34wks she had past away a lil while after she was born. And me and my husband are talking about trying again in the future. And my Dr told me i had a 1% chance of have another baby with trisomy 18. Then i read alot on some ppl on that they have healthy lil boys but every girl they had was either diagnose with T 13 or T 18. So i'm scared of trying and i have another lil girl if this would happen again? View Answer |
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2005-09-14 |
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How does a child with a Chromosome 13 Q12 deletion present? View Answer |
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2005-09-14 |
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How is Turner syndrome inherited? View Answer |
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2005-09-14 |
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I am 17 weeks pregnant and had the amniocentesis reveal an inverted chromosone #3. What is this, and what kinds of defects or harm could this cause my baby? View Answer |
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2005-09-14 |
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I am 23 and have 2 children - a son who is 3 and a daughter that turned one yesterday. My daughter in Febuary began having infantile spasms, all tests returned normal with the exception of her chromosome analysis that came back in April to our surprise. The doctors said my daughter has a de novo partial duplication of chromosome 14 starting at q11.2q13. My question is they told us there are no others and no medical documents, she's a fluke! My question is is there anything that could have caused this? I was extremely stressed out throughout my pregnancy and my husband was smoking and using seriquil at the time of conception - could theese factors cause a gonadal mosaicism? I know they say that gonadal mosaicism happens during development of the fetus, but is that the only option?? Also she is considered to have "full" partial trisomy, all 20 cells both times show the duplication. Could you tell me what things we should be monitoring, or what test's to have done? I spend hours everynight reading as much as I can anything you have or websites that have info would be great! Also just a short update on my baby, she's one year old and her main delay is her motor skills; she does sit unsupported and acts socially and cognitively close to her age. Is there an age that this will decline or change? Also what about vaccinations with her seizure history (about 24 hours of infantile spasms/with hypps that resolved after 2 wks on ACTH) and the chromosome abnormality - are they safe? View Answer |
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2005-09-14 |
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I am 31 years old and have a 3-year-old healthy daughter and just lost a daughter to Mosaic Trisomy 18. What are the chances that this could happen again? View Answer |
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2005-09-14 |
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I am 42 I have one healthy baby son in which I had when I was 40. I recently had a pregnancy diagnosed with Trisomy 13 and elected to have a D&C. What are my chances of having a healthy baby? View Answer |
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2005-09-14 |
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I am a 35 year-old female with no history of genetic problems, and have been married 4 years to the same man, also with no family history of genetic problems. I have a normal 10 year-old boy from my first marriage and a normal 3 year-old boy from my current marriage. I became pregnant last year right before my husband was deployed to Iraq. I lost that baby at 22 weeks due to Turner syndrome (karyotype done on baby). My husband came back from Iraq, and I became pregnant this year, up until my 11th week, when a cystic hygroma was seen on this fetus (same as previous baby). The hygroma measured 5.2, which the perinatologist said was very large. I decided to terminate the pregnancy. I am so distraught by these 2 losses. I just can't understand why this could happen to me twice. I guess my question is could this be caused by something that the military vaccines caused or did I have to have 2 Turner's cases in a row? Wouldn't that be considered rare? Genetic testing is very expensive and we want another child badly. Should I try to become pregnant again after these 2 occurrences? View Answer |
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2005-09-14 |
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I am a clinical teacher of young children, one of whom has Ring 20 Chromosome Syndrome. He experiences many seizures which are not responding to medication. He has no dysmorphic features. He alternates between being sweet and loving to learn to being oppositional and aggressive. I have difficulty differentiating between behaviors which attend very subtle seizures and behaviors which appear to be intentional. Can you suggest resources or help me understand this child better? View Answer |
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2005-09-14 |
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I am debating about having my 5 month old daughter tested for genetic conditions including Down syndrome. I had a positive AFP test at 20 weeks of my pregnancy for Downs but didn't elect to do an amnio because a high level ultrasound showed no features of Downs. The only features she has postnatally are epicanthal folds and upward slanting palpebral fissures. She seems to be meeting her milestones to date. She may be a tad hypotonic but within normal range. My question is, can a "normal" child - one without any chromosomal anomalies have slanting eyes and epicanthal folds? My husband and I are both caucasian so it is unlikely there would be an asian racial influence to the appearance of her eyes. Please let me know what you think. View Answer |
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2005-09-14 |
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I have a 11 yr old stepdaughter with a chromosome 16q deletion. I am trying to find any info on this. View Answer |
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2005-09-14 |
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I have a 12 yr old son that was diagnosed with trisomy 1 when he was born and I don't know anything about the disorder. The doctor told me that he wouldn't live to be a year. I was wondering what is the life span of a child born with this disorder? View Answer |
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2005-09-14 |
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I have a 4 month old girl with an extra chromosome #8 which is also attached to the other. She was a month early, and had a feeding tube plus she was on a heart monitor for 3 months. She has a very bad diveated septum causing some breathing problems also. My concern is the extra # 8 , I also have an extra one. All tests and MRI have come back normal, and she is doing well and gaining in weight, strength, length, and is very alert. I would like to know more about #8 and what it might effect in her now or the future. I can't seem to find much info on this, and my doctors aren't sure how it is going to effect her till she is older. View Answer |
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2005-09-14 |
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I have a son who is now 13 years old. He was born with a chromosone abnormality. He has extra material attached to his 4th chromosome. He is profoundly deaf and presents with some autistic traits like: fixating on spinning things, and he loves lights flickering. He has learned to sign for the things that he wants to eat or do. I was wondering if there was another child like him. I was told that it is a very rare chromosome defect. He has all of his body parts but there are a few extra joints in his fingers and he has other small deformaties. How can I locate another family with this problem? View Answer |
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2005-09-14 |
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I have a son who was born with ear defects, probably late delivery, breech birth. He has OCD,and GAD. He had developmental delays but has caught up. He is of normal intelligence. His genetic makeup said he has a short arm off Chromosome #9. We can not find out anything about how this chromosome may be defective and what it means. Can you tell me if it could contribute to OCD, GAD and what a defect of Chromosone 9 means and what causes it. View Answer |
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2005-09-14 |
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I have been told I am a carrier for Turner Syndrome (pre-pregnancy). What are the statistics for a child to be born with the condition? How likely am I to miscarry? Is IVF now out of the question? View Answer |
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2005-09-14 |
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I know that trisomies of chromosomes 21, 13, and 18 are seen in live births, but why only those? And second, why aren't trisomies of larger chromosomes able to produce a live individual? View Answer |
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2005-09-14 |
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I was just reading some information about chromosome 10 abnormalities and was concerned to read that most children with 10q or 10p partial monosomy (part of the long arm missing)do not have a very long life span. Is this correct for all cases and how soon would the serious health issues become apparent? View Answer |
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2005-09-14 |
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I would like any info you have on Mosaic Partial Trisomy-Chromosome 1P(developmental issues, medical problems, life expectancy, etc.) I can't seem to find anything specific to this chromosome. View Answer |
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2005-09-14 |
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I'm 44; my sister, and my sister's two children have all been diagnosed as having a marker chromosome. Both of my sister's two children are autistic and have grand mal seizures. My brother has not received genetic testing, but his son is genetically normal, although he has Aspergers, Tourettes, OCD, and some other issues. How common is this particular mutation? What percentage of the population would have it? We all have the marker chromosome in every cell sampled. Also, is there any possibility it could be responsible for my sister's children's problems? My sister, while a functioning adult, is somewhat spacy. View Answer |
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2005-09-14 |
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I'm interested in any information on vitamin supplements or Dr. Warren's prenatal nutritional recommendation for Down's syndrome pregnancy? View Answer |
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2005-09-14 |
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In august I gave birth to a stillborn child who was 10 days overdue.She weighed 9lb 6oz. after having a post mortem we were told that 80% of her cells were 46XX and 20% of them were 47XX; the extra chromosome occured on her 8th chromosome. What problems would she have had and would these have caused the stillbirth? View Answer |
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2005-09-14 |
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Is Down syndrome inherited? View Answer |
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2005-09-14 |
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My 1 1/2 yr old grandson was just diagnosed with mosaic partial trisomy. My daughter said chromosome 1 is the affected one and that this is extremely rare. Is mosaic partial trisomy and trisomy 1 the same????? Any info on this would be greatly appreciated. I'm very worried and concerned. View Answer |
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2005-09-14 |
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My 3 1/2 year old daughter has extra material on her 14th chromosome? The genetic counselor called today and is not sure what that means. Do you know anything about extra material on the 14th chromosome? Also, daughter is adopted from an Eastern European Country. We do not have info. on biological parents. View Answer |
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2005-09-14 |
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My brother was born with an extra chromosome 15. Is this disorder in my genes? What are the chances of my husband and I having a baby with this genetic disorder? View Answer |
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2005-09-14 |
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My daughter and I were diagnosed with a 10q chromosomal inversion. This is an inherited abnormality. My daughter and I are both in good health and have no learning disabilities. How do I get information on this particular syndrome? I went for genetic counseling 10 years ago when we were first diagnosed, but at the time there was no information they could provide us. Any resources or information would be greatly appreciated. View Answer |
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2005-09-14 |
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My daughter has a paracentric inversion of the q arm of chromosome 7 with break points at 11.23 and 36.3. Does anyone know what effect this can have on my daughter? View Answer |
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2005-09-14 |
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My grandaughter (age 6) has a deletion of chromosome 10. She cannot pass urine normally and therefore to relieve these symptons we pop her in a bath of warm water where she can relieve herself comfortably. Sometimes she can go ok on her own. Her bladder has increased in size over the years and doctors at Guys Hospital in London have said she may need an operation in the future or have to learn how to catheretize herself. She used to have intermittant catheters as a young child but won't let her parents do this now. Do you know if there are any other parents of children with this deletion and do their children have behavioural problems? My grandaughter acts out a lot and can get quite nasty. She has been ruled out as having ADHD. View Answer |
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2005-09-14 |
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My grandson has Cru de Char? Not sure how to spell - can you help to explain - he has it very slightly & I understand it to be a chromosome disorder. View Answer |
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2005-09-14 |
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My grandson was born with a part of the #1 chromosone missing. We have been told there are five cases of this in Saskatchewan. I understand this is caused by a deformed ova or sperm so it is predetermined. Are there many children in the states that are born this way and if so what is their life-expectancy? We love him and hope he will be with us for along time. He has had heart repair done, hernia repair and is scheduled for a hearing test. He is now two and has never sat up or shown any response to humans or sound. Any info would be appreciated. View Answer |
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2005-09-14 |
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My grandson was just diagnosed with Down syndrome. Where do you find information about the degree of severity for this disorder? What can we expect? View Answer |
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2005-09-14 |
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My husband and I have just found out that our 5-month-old son has additional material on the long arm of chromosone 6. We have both had blood taken and are waiting for the results. In the mean time what can you tell me about chromosome 6? Our son is displaying some dysmorphic features and poor muscle tone. View Answer |
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2005-09-14 |
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My husband and I lost a baby 6 months ago that our CVS showed had trisomy 21. I am 6 weeks pregnant now and concerned about the chances of this child also being trisomy 21. What are the odds of this occurring again? (I will be 37 when this child is due). View Answer |
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2005-09-14 |
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My nephew has a child with chromosome #18 missing. What are the effects what to expect from development physical and mental? View Answer |
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2005-09-14 |
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My sister is 37 and 4 mos pregnant. She was told chromosome 18 did not split and she may not carry the baby to term. I would like any info on birth defects this could cause and her chances of a live birth. View Answer |
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2005-09-14 |
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My son (now 1 year old) has had some problems growing and developing. They did some bloodwork and I heard from the doctors' office that they needed to look more closely at his 2q chromosome. The lab tech could not tell me anything about that chromosome and I was wondering what are some things that could be wrong with him if he does have some sort of abnormality with 2q? What does the 2q chromosome determine? View Answer |
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2005-09-14 |
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My son has Down syndrome. Should his sister consider genetic counseling in light of her close family linkage? We are a close and happy family and I am sure that she wouldn\\?t make the judgments concerning her own testing in the same light as most people would today, but, medically, what would you recommend? View Answer |
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2005-09-14 |
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My son has been diagnosed with an abnormal chromosome: a paracentric inversion of chromosome 6 affecting the long arm with breakpoints at 6q22.3 and 6q27. My husband and I have had blood drawn for chromosome analysis and both of us have normal chromosomes. My son was born aymmetric SGA, but has gained weight and is now doing well. I would like to know if this inversion will have any long-term effects on his growth and development? View Answer |
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2005-09-14 |
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My son has been diagnosed with duplication 17p11.2. I am looking for more information on this. View Answer |
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2005-09-14 |
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My son was born with extra information on chromosome 7. He spent the first week of life in the hospital for breathing problems and a very large soft spot that did not close until he was around 2. The hospital could not give me any info on chromosome 7 and told me to wait and watch. Do you have any info you can give me? View Answer |
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2005-09-14 |
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We have been told that there is extra chromosomel material on chromosome 16-----rearrangement proximal 16q--can you please explain? View Answer |
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2005-09-14 |
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We have just adopted a baby girl with del 10(p11.2,p13). She is exquisite. She has unusual facial and ear characteristics. What are the likely other associated anomalies? View Answer |
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2005-09-14 |
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What are the genetic disorders associated with chromosome 10? View Answer |
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2005-09-14 |
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What exactly is trisomy 3 and why should a child with trisomy 21 be more likely to come to term than a child with trisomy 3? View Answer |
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2005-09-14 |
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What genetic defect with the fourth chromosome would cause a learning disability, or an overall disability? View Answer |
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2005-09-14 |
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What is Trisomy 1 and what are the effects on a child who has the disease? View Answer |
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2005-09-14 |
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What is the cause of Down syndrome, what care options are out there for a child with this disease, and how much does it cost for the care of a person with this disease? View Answer |
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2005-09-14 |
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What is the condition called if a child has chromosone 14 missing? View Answer |
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2005-09-14 |
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What is the long term prognosis for a person with chromosome 13 ring syndrome? View Answer |
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2005-09-14 |
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What kind of eggs will a woman with Down Syndrome produce? View Answer |
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2005-09-14 |
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Yesterday, we learned that our daughter, almost 16 months, hasthis karyotype:46,X, r1(X) [16]/47,X,r1(X), r2(X) [4]with the note all cells analyzed showed a small ring and that FISH studies also showed the presence of cells missing both ring chromosomes(45,X cell line). Ok, we get thatshe has Turner syndrome. Is her karyotype really:45,X; 46,X, r1(X) [16]/47,X,r1(X), r2(X) [4] Also, does anyone know what the presence of TWO rings means? Could you direct me to where to search for further info? View Answer |
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2005-09-14 |
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My son was recently diganosed with abnormal chromosome 10.... what is that exactly ?? View Answer |
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2005-09-12 |
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