Chromosome Translocations | Ask the Geneticist (SM)

Q&A about defects in the configuration of human chromosomes, where pieces of chromosomes have exchanged places or where pieces or entire chromosomes are attached to one another. Translocations may be balanced, where there is no extra or missing genetic material. Translocations may also be unbalanced, where genetic material is deleted (missing) or duplicated (extra).

Other information about chromosome translocations:

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

Chromosome 21 (5) No Sub-topic (135) Showing 140 questions

Displaying: All questions - use the list above to filter results.


	Question		Date



	I AM A 41 YEAR OLD MOTHER OF TWO CHILDERN,MY SON WAS DIAGNOSED AT 18 MONTHS OLD AND MY DAUGHTER AT 4 YEARS OF AGE,WITH A GENETIC DISORDER,ME AND MY TWO CHILDERN HAVE A TRANSLOCATION,#4 CHROMOSOME HAS BROKE OF AND HAS ATTACHED ITSELF TO #19 CHROMOSOME.CAN YOU TELL ME WHAT THIS MEANS FOR US AND IS THERE A NAME FOR THIS CONDITION?I FOUND OUT I HAD THIS IN MY 30,S AND PASSED IT ON TO BOTH OF MY CHILDERN.WHAT IS THE FUTURE?AND HOW DOES THIS EFFECT US LONGTERM?SCHOOL?MY KIDS HAVE MAJOR LEARNING PROBLEMS.WHAT CAN WE DO? View Answer		2009-11-12


	Two of my children have been diagnosed with complete translocations t(4; 17), I cannot find any information on this type of condition, what can possibly happen, or even someone to talk to, my youngest was tested while having several hospital stays for repeated vomiting, pain urinating, she also has reflux of the left kidney, and Ketonic Hypoglycemia; my 10 year old has Bi-Polar Disorder, ODD, ADHD, and borderline Manic. Can any of these mental or physical problems be linked to this translocation? View Answer		2009-09-28


	I need to know about the #2 chromosome please my daughter was told that she has got 1#5 chromosome and 3#2 chromosome the #5 we know that is called cats cry the #2 no body knows anything about the #2 chromosome so of you can hepl me please write back and let me know thank you very much View Answer		2009-09-22


	My wife recently had two miscarriages and is currently 6 weeks pregnant and we just found out that I have the following karyotype - 45,XY,der (13;13) (q10;q10) Is there any possibility for the feotus to carry either normal chromosome composition or the translocation composition like myself. Is it possible that some of my sperm cells will have normal chromosome composition or does does this abnormality imply that it will be in all cells (including sperm) and we should not try for future pregnancies? Should I be concerned about any health conditions in the future? What options do we have to concieve a healthy child with the abnormality I have and what are the success rates? Would Assisted Reproductive Techniques be beneficial in any way (eg culture the embryo outside the body, test for the abnormality and then implant?) Has there been any recent advancements in research in this area that we should explore? Many thanks for your help View Answer		2009-09-06


	We are having a girl. The results from the amnio came back showing a translocation on chromosome 10. It is in area (?;10) (?;q26.1~26.3). They took blood from my wife for further tests. Currently, they can't tell from where the translocation came from, nor if the translocation is balanced or unbalanced. We would like to get more info on possible abnormalities, and percentages of abnormalities vs being normal, based on if the translocation is balanced or unbalanced. View Answer		2009-09-03


	hello,i am a 41 year old mother with two childern,we have chromosome disorder,my son was 18 months old i was 30 and my daughter was 4 when they found this.my question is we have extra material on chromosome 19 and for years they told me they did not know what it was and then last year they told me there is a new test they can do so in 2008 i had my daughter tested and the results were it is some of chromosome 4 that broke off and floated over to 19 and attched itself to it.so to date there is no nane for this can you help me? View Answer		2009-08-30


	Do you have any information about 4p+ with the translocation from chromosome 17? I have searched in vain to find any reference anywhere. I support a man with the above translocation, he does not have Down's syndrome but does have learning difficulties. His sister has the same translocation with milder learning difficulties. He is in his 30's and we are concerned about his general health and what, if any, long term issues may arise as a result of the condition. Thank you. View Answer		2009-08-24


	My 18 month old child was recently tested for various things and the results came back with two abnormalities.They are in the 12th and 15th chromosome and I have no clue what they mean . I only know that now my husband and I need to be tested to see who has what and how it relates to our child. I have heard of just one abnormality , but two seems to be way out of normal for me. What possibly is it? The reasons for the test was microcephaly,poor tone,and speech problems. I would like to know what I am dealing with so I can start the coping and healing process for the family. View Answer		2009-08-03


	my daughter was just diagnosed with having a complete set of the 8 chromosone and an extra 8q which is attached to her 12q and never having a 12p. what does this mean? View Answer		2009-07-29


	I have two children: one son with co-morbid chronic fatigue syndrome (aka ME) and son another mainstream autism. The child with CFS/ME has a de novo balanced translocation 46,XY, t(5;6)(q13.1;p21.3). My son with autism has no chromosomal abnormality. What is the likelihood that the BT is my son with CFS/ME has had a bearing on his condition and on his immunity? Asperger traits have also been mooted in my son with CFS/ME. What is the likelihood that the BT may have a bearing on this (ie autistic/Aspergers) condition? Many thanks in advance for your possible response. View Answer		2009-06-18


	We have just been told that our 4 year old boy has a balanced Robertsonian translocation of chromosome 13 and 14. He was diagnosed as being autistic (moderate) just over a year ago. Could this new genetic detail mean that he is not autistic but suffer from a different disorder? View Answer		2009-05-21


	i have balance translocation in two gean 23 and18 .my wife is normal,in last pregency some physical abnomalities was foud at 28 th week,such as club feet.one valve ???????????and some water in brain etc.aborted. now we are plaining to have a baby. ;can you suggest us what is the probeblity thanks and regards View Answer		2009-04-09


	I have a balanced translocation consisting of the short arms of a # 9 being attached to the short arms of a #5 chromosome. My son recevived only the chomosome with the added material, therefore he has extra short arm of the #5 chromosome. He is now 36 and there was little information at the time the tests were preformed. Is there any new information on this translocation. Are there any other cases with this exact condition? Any information would be appreciated. View Answer		2009-04-01


	hi, i have translocation of 3 and 5 can you tell me anything about them? i have 2 boys my oldest has the translocation not sure about the wee 1, lost my girl to anencephaly but she had transloction, could that have caused it? she had same chromosomes as me, my mum had this and so do all her brothers and sisters, also my cousins apart from 1, i am actually jst had another miscarriage this be my 8th all early on about 5/7 weeks, would this mostly be the translocation that would cause this?, the reason we found out about it was my sister was born where the translocation hadnt equaled out, instead of swapping a part from each number 3 was on number 5 and number 5 hadnt swapped, she died at 6 months couldnt cry, had clef lip and heart problems, my son oldest son was born with heart defect truncus arteriosus is all this linked or just 1 of thoses things? View Answer		2009-03-29


	i'm 31years old,i had one healthy baby borned in nov 2004, i had 3 misscarges,26 weeks haydrocaphly died after delivery,1 lukmia bay died 6 month,so i'm known balanced translocation carrier for 13:14 chromosome. now i'm palning to get pragnant to get healthy baby pls if u can reply to me ASAP View Answer		2009-03-21


	I have a balanced translocation of my 15 and 18 chromosome. I have lost one baby to Edwards syndrome, had a few miscarriages, and one son who also has the balanced translocation. I just found out that I am pregnant again and I can find no information telling me what my chances are of having either another child with the translocation or just a healthy baby. I am deperate to know the chances, I dont want to get too excited or attached if there is not a lot hope. Please let me know any info you may know. Thank You. View Answer		2009-03-10


	We have 2 healthy daughters, 4 miscarriages, and then a son who was stillborn at 32 weeks. Physical defects were noted on our Son's sonogram and then when he passed we found out he had an unbalanced translocation of 1 and 8 and I am a balanced carrier. We saw a genetic specialist who expalined our risks and options. My question that I keep getting conflicting data on between the internet and my OBGYN is, is this rearrangement always fatal? I can not find info on 1 and 8 rearrangment. It appears from your website that not all tranlocations are fatal. My doctor said that as far as she knows an unbalanced translocation is always fatal. We are looking to answer this question to determine if we will try for more children or not as it affects what we would do if I child tests positive for the unbalanced rearrangement. Thank you for your time. View Answer		2009-03-05


	I am the father of a 5 year old girl Who was conceived in vitro with a fraternal twin. She was diagnosed with an unbalanced translocation of chromosome 8 monosomic for the distal tip of 8p and trisomic for the section of 8q distal to 8q24. The 8p terminal region is deleted with the extra material being the distal portion of 8q + marker. She doesn't speak, but does sing (no words). She refuses food and is fed through a gastrostomy. She walks, but haltingly and unbalanced. Her development is at about 12-14 months. Do you have any experience with this translocation, and if so any insight or links would be appreciated. View Answer		2009-02-04


	I have a 3 month old son that was born with Unbalanced Translocation of chromosomes 1:9. Despite his other complications he is badly jaundice. According to doctors they say this is a very poor prognosis for survival. I was wondering if their is a life expectancy for this type of disease. They are telling me they have no studies for this but im sure he is not the only person ever born with this. I can not find any information with chromosomes 1:9. So if you gave any information what are some things that i shoulod expect to see happen? View Answer		2009-02-01


	Hi, I have a healthy 3 year old daughter(first pregnancy) I lost my 2nd pregnancy at 29 weeks and found out this baby had Trisomy 13 Translocation. My OBGYN told me he did not think this was heriditery because my first child was born with no problems. Now I am currently pregnant but by the sonograms we are off from my LMP about 2 weeks. I wanted to know what are the odds that either my husband or I are carriers of this disease. Also we have no family history from our family nor have our parents had any miscarriges in the past. View Answer		2009-01-22


	my partner has a translocation balance of chromosones 13 and 14/ or 14 and 15 what does this mean for pregnancys for me View Answer		2009-01-19


	Hi, My husband has a Balanced Translocation 46,XY,t (2;22) (q37.1 ; q11.2) We seen a Genetics Counselor in 2003. I was wondering if their was some new info. out there. I was researching and cannot find any sequences on the net that match my husbands. I was curious to find out if their are new statistics for sab's for this specific translocation. We have had 7 Pregnancies with 6 Losses. 3 at around 5&6 weeks,3 at around 10-12 weeks. My live birth resulted in a perfectly normal healthy baby girl that does not have a translocation. Please give me any updated info,statistics for miscarriage rates that you can! Thank You so Much!! View Answer		2009-01-18


	i had a child born with 21 12 translocation. what can i expect of his learning ability? View Answer		2009-01-16


	Good day, I am a 38 year old woman, 20 weeks pregnant with my second child conceived from an IVF procedure. After doing an amniocentesis it was discovered that my fetus (female sex) has a de novo reciprical balanced translocation (13q12.3 and 16p12.1). I will be doing the 2nd trimester ultrasound tomorrow to rule out any physical defects but not mental deficiencies. My question is twofold: firstly if the fetus does not have any physical abnormalities (including heart problems) will this reduce my risk of having an abnormal baby (my geneticist told me the risk is 5-10%) and furthermore, should I have my 18 month old toddler (she is normal functioning) tested? Is it possible that she may have this translocation also (they were produced from the same 'batch' of blastocysts from the IVF cycle)? And would this make any difference in our chances of having a normal functioning second baby? Thank-you. View Answer		2008-12-22


	My granddaughter was born 11/01/08 - she has tef/ea. She had surgery for this and it was a success. Still having trouble feeding and stridor. We have also been told she has balanced translocation between the short arm of 5 and long arm of 13 - 46,xx,t(5,13) (p15.1,q14.1) What does this mean? How will this affect her future? Could there be more birth defects we dont know about? Any information would be very much appreicated. View Answer		2008-12-03


	After 2 miscarriages we've learned my husband carries a balanced 6;8 translocation. What is the % chance that a baby would have a) no translocation, b) same balanced translocation, or c) an unbalanced derivitive? What types of defects are associated with an unbalanced derivative of a 6;8 translocation? View Answer		2008-11-22


	My mother is a carrier of a chromosome defect: Translocation 9q/13q resulting in duplication (trisomy 9pter→9q22) and deficiency (monosomy 13pter→13q12). She had a child that was born with severe birth defects and died at about 6months. When she became pregnant with my sister and I they decided to do an amniocentesis. My sister is not a carrier and has 3 healthy boys. The results from the amniocentesis when she was pregnant with me (in 1977) show 46xx. I have had 3 miscarriages and am concerned that I could be a carrier of this defect. Is it possible that I am a carrier even though my amniocentesis showed 46xx? Thank you. View Answer		2008-11-21


	I have recently found out that I have a balanced translocation. I also have a daugther who is 2. I found out about the balanced translocation after my daughter was born when my brother was found to have the same balanced translocation as me and the rest of the family were tested. I want to know if there are any problems associated with being a balanced translocation carrier. I have been told no. My daughter is fine and have been told she either has normal chromosomes or the same balanced translocation as me. I have been worrying and would really like an answer as I've read things on websites (some of which I don't understand much of the content). View Answer		2008-11-17


	Hi, My wife and I were having trouble concieving (?), and found that I have a chromosome translocation 46,XY, t(9;12(9pter?9q22.1:12q24.1?12qter;12pter?12q24.1:9q22.1?9qter). I am just trying to find out what it all means, what's the chances of having children; and are there any health issues that I should be aware of??.. I'm just lost.. been to a Reproductive clinic and was pretty much brushed off.. HELP!!!! View Answer		2008-11-03


	At age 14 my daughter was diagnosed with Acute Lymphocite Leukemia. The cariotype revealed 46XX t(9:15) (q21q25 (20). There is a balanced traslocation in the arms of 9 and 15. There is a mutual interchange. The study says is constitutional and not related to the illnes. Doctors told us that there is no answer to the question if she is more vulnerable to other illnesses besides the one she already has. The told us to perform studies but I am 55 and I dont know if this is of any help perhaps my husband should. Man can always have children. Thanks for your help View Answer		2008-10-24


	I am a complex balanced translocation between chromosomes 1, 9 and 18. My karyotype is 46,XY,t(1;9;18)(p13;p22;q23). The majority of the short arm of one chromosome 1 has translocated to the distal short arm of one chromosome 9. The distal short arm of one chromosome 9 has moved to the terminal long arm of one chromosome 18 and the terminal region of one chromosome 18 has translocated to the short arm of chromosome 1. Can you please provide further information regarding this karyotype and what abnormalities/diseases may be associated with this? I also have a very low sperm count. My wife have had one misscarriage through ICSI. What are the chances of us having a healthy normal child through IVF/PGD and what are the risks??? Do you think that IVF with PGD will helps me to solve the problems?? Looking forward to your reply. View Answer		2008-10-12


	I am currently working with a family with a three-year old child diagnosed with translocation of chromosomes 2 and 12. The family would like information about the long term effects. For example, the child was diagnosed with mental retardation and wonder if there are other areas they should be concerned with. The younger sibling was also diagnosed recently, while two older siblings are typically developing. Thank you for your help. View Answer		2008-09-25


	I am 18 weeks pregnant. Results of amnio indicate the following karyotype: 46, XX, t(1;2)(q25;q31). We understand that this is a balanced reciprocal translocation of the long arms of chromosomes 1 and 2. We are contemplating further FISH analysis, and have an appointment with a geneticist next week. Can you please provide further information regarding this karyotype and what abnormalities/diseases may be associated with this? We understand the likelihood of a manifestation of an abnormality is about 6%. Thanks so much. View Answer		2008-08-20


	Dear Geneticist, I would like to know if you think we should have some more genetic testing done on our 5 year old daughter. She was diagnosed with Down syndrome (21;21 translocation) soon after birth and has already had a fair share of genetic testing done. Just to list some of her features: she has heterochromia, one of her eyes is blue/green and the other brown (mine are blue, dad's are brown, no other cases of heterochromia in our families). The blue/green eye has Brushfield's spots, while the brown one doesn't. She also has numerous very pronounced freckles on the left side of her face (her left eye is the blue/green one) and near to none on the other side. Most of her hair is very straight (me, dad and sister have straight hair), but in the back of her head she has a couple of flocks of hair that have perfect corkscrew-like curls. I find the whole subject of genetics fascinating and would like to understand the factors that created these unusual features. View Answer		2008-07-31


	I have diagnosed with an BT (4,6)(p14,q27) i.e. a non-reciprocal balanced translocation. The test was requested after a positive CVS result (1st pregnancy).. the foetus was diagnosed with a terminal deletion chromosome 4 at p14. I am 34 and my wife is 30 years old (normal karyotype). We decided to terminate the pregnancy in the 17th week. My question Is a non-reciprocal BT any different from a reciprocal BT in terms of statistics of having a successful natural pregnancy. Is it really a 50% percent chance of having a carrier / normal child? View Answer		2008-07-29


	DEAR GENETICIST MY FIRST CHILD HAS BEEN DIAGNOSED WITH TRANSLOCATION DOWN SYDROME ON CHROMOSOME #6. WE FOUND OUT THAT MY HUSBAND HAS BALANCED TRANSLOCATION.HAVE YOU HEARD OF ANY SIMILAR SITUATIONS RELATED TO CHROMOSOME #6? IF YES, WHAT ARE THE MENTAL IMPLICATIONS ON THE CHILD? WHAT ARE THE CHANCES TO HAVE ANOTHER CHILD WITH THE SAME GENETIC CONDITION? OUR CHILD IS NOW TWO AND A HALF MONTHS OLD AND HIS ABILITY TO UNDERSTAND AS WELL AS HIS MOVEMENTS ARE WITHIN HIS AGE RANGE. WE ARE FOLLOWING A PHYSIOTHERAPY PROGRAM ONCE A WEEK AT THE MOMENT. WHAT ELSE CAN WE DO TO HELP OUR CHILD THE MOST WE CAN? LOOKING FORWARD TO READING YOUR ANSWER View Answer		2008-07-08


	Hi, My 17 year old daughter was just diagnosed with x/y translocation. She has a history of Madelung's Deformity and Asperger syndrome. It was recommended that her ovaries be removed "yesterday". Her Asperger's puts her at great risk for depression of which we have already seen signs. The emotional territory of surgical menopause and hormone replacement is very scary for us. How comfortable can we feel to moniter her ovaries every three months with an ultrasound rather than surgery? Please note that she has no masculine features and if her ovaries are determined to be of normal appearance per laparoscopy, would this influence your response? View Answer		2008-06-24


	Having trouble conceiving and as part of the work-up we found out that my husband carries a balanced translocation across three chromosomes 46,XY,t(5;12;7)(q31.1;q24.11;q22.1). Looking for any info on whether a male with this phenotype can father children, likelihood of spontaneous abortion and what phenotypic abnormalities can be expected from a live birth. Any info greatly appreciated. View Answer		2008-06-17


	my son was diagnosed with a unbalanced chromosome translocation his karyotype is 4x7der(3)t(3;7)(p25.3;p21.2)de novo.He is now 3 years old, he has development delay in all areas,but i am concerned about his increasing obsession with all domestic cleaning duties ,is ocd a related to chromosome disorders.I am also concerned about his short stature is dwarfism also connected. View Answer		2008-06-15


	My daughter was born with Emanuel Syndrome and my husband is the carrier. I would like to know with the following chromsome pattern if we have a chance to have a healthy child naturally. My husbands is written as 46,XY,t(11;22)(q23.3;q11.2). We are still debating about natural or IVF/PGD. View Answer		2008-05-25


	my nephew has down syndrome with (47XY+15(21) and i want to ask that what will the risk of down syndrome in future children if my sister is the carrier and what is the risk if her husband is the carrier and if you can provide any information on the fact that any role of stem cells in the treatment of down syndrome thanks View Answer		2008-05-20


	My husband and I have been told that our unborn baby girl, has a de novo blanced translocation 46,XX,t(1,15)(p21;p13) and a 6% chance of having a child with mental retardation and congenital anomalies. I'm trying to be optimistic and remember the 94% chance of having a healthy child. Unfortunetly, I'm doing too much reseach on the internet and found a case study of a balanced translocation t(1;4)(p21;p14) (same break in chromosome 1 at p21) which resulted in mental retardation, physical anomalies and schizophrenia. Is it likely that having the same break point in chromosome 1, will lead to these conditions? We are having a tough time getting any answers and just want to know and be prepared as to what to expect and if there is any way in knowing what each breakpoint is linked to physically and mentally? View Answer		2008-05-16


	My wife has a balanced translocation of the 17 chromosome. What are the chance of passing this on to offspring? We are doing IVF with PGD and are wondering how many embryos we should have before we send them for PGD. View Answer		2008-05-16


	Hi, I have a question. When I was born, my number 3 chromosome detached and traveled onto my number 20 chromosome. They didnt know if I was going to have any physical abnormalities when I was born. Luckily I didn't, but now I can pass this on to my children, grandchildren..etc. I was wondering what the percentage is that they will have any abnormalities and also what abnormalities these could be. I've been researching these chromosomes for a long time and can't find anyone who knows any problems my babies could have. I can't find any answers. Do you have any? Thanks. View Answer		2008-05-11


	My husband and I are pregnant for the fourth time, we have had 3 miscarriages over the past 2 years, and I am 26 years old. Genetic testing was done after my d and c a few months ago and we found out that I am the carrier of a translocation where chromosome 14 broke off halfway and joined chromosome 21. My doctor wants to do CVS testing at 10 weeks, but we've never carried that far! What are my chances of carrying a healthy child full term? View Answer		2008-04-23


	My two chlidren daughter of 6 and son of 4 have a balanced Robertsonian translocation between cromosoms (13;14)(q10;q10). My husband is the carrier of the translocation. My 6 year old we noticed that she was showing a motor skill delay since she was 9 month. On the other hand my 4 year old does not show any problems at all. I would like to know if her motor skills problem has to do with her this condition and and is there anything else we should be aware of. View Answer		2008-04-20


	A family member has a baby boy he is now 3 months old and has been diagnosed with a chromosomal deficiency and given no more that one year to live. His mother immigrated to Madeira a few years ago and the hospital treatments are very basic there. We have the results of the chromosome test but it was not explained to what symptoms or consequences this might have on the baby. They just gave the result and said that he was not going to survive more than one year. she is desperate to find out more about the condition and if there is anything that can be done for baby. At the very least to understand and prepare for the year coming. I have been searching the internet for any clues and have not been very successful. Was wandering if it would be possible to get an anonymised description of the symptoms associated with his specific karyotype, or if you could direct me to somewhere where I could find this out. karyotype 46,xy,der(10t)(10;19)(q26.3;p13.3)mat View Answer		2008-04-12


	My son is 13 yrs old.Has been diagnosed with Chromosome translocation (2to 10 and 10 to 2at age 3)some of the matter lost.He cannot speak,has very bad fine motor skills.has ent problems.Would like to know what health problems he may have in the future.He was always a sweet boy,but has become very frustrated(as most teens are) He has been fairly heaslthy for now,but has been hospitilised @ 2weeks for gastro-oesophagal reflux.As a little boy he spent alot of time in hospitals and doctors and specialist rooms.Doctors cannot tell us much,but I have read something about a possibility of leukeamia developing in the teen years.Is there any truth in this,what medical problems can I expect?And what are the problems that come with this type of translocation? What could have been the cause? View Answer		2008-04-07


	My husband and I are expecting our third child. Both of our other children have been normal developing. I am currently 6 months pregnant. At approximately 16 weeks gestation I elected to have a quad screen. Results yeilded the potential for Trisomy 18, however after sonograms, genetics testing, and an amnio it was found to be false. The results we now have are the following: Chromosonme 17 is normal, however A portion of chromosome 7 was deleted on the long arm and an additional part of chromosome 17 was added to chromosome 7. My last sonogram indicated the baby boy is now 3 weeks behind with limbs measuring shorter than normal. Edema in the feet and possibly in the back of the neck and head. All major oragans appear to be developing with no major defects. Specifically, I want to know some of the characteristics that may be present with this chromosomal abmormality such as developmental delays, learning disabilities, physical characteristics, etc. View Answer		2008-04-01


	17 years ago, I underwent amniocentesis. I finally found the letter with the results of that genetic testing. The fetus carried a balanced reciprocal translocation of t(3;14) (q25;q13). I also carry this. They assume I got it from my mother, as she had multiple miscarriages. I've been searching the internet, but can't find any specific info for this translocation. Do you know of any abnormalities regarding this, or where I might be able to get more info? My son is now 16 and a half, I'm 52. Neither of us have any apparent problems. View Answer		2008-03-26


	I'm 23 years guy.the following result of my genetic test shows: Karyotype: 44,XY,rob(13;14)(q10;q10)x2 Balance roberstonian translocation. where my cousine was a normal 46,XX. she's 20 years old. my question is: what's the chance of genetic disorders in our children if i got married to her? and what this result means?knowing that we are realy closely related in family ( my parents are cousins of her parents & my grandfather & mother are also cousins of her grandmother & father). Is there a chance that I can marry her & have a healthy child?please inform me if there is any new techniques in medicine that can help me to have a healthy child.. even one child. Many Thanks, and I do like this great information that you support us with,i appreciate it.. View Answer		2008-03-13


	My son has a genetic translocation and was wondering if you knew any problems associated with it!! 46,XY,t(6;7)(p12.3;q31.1)pat.ish t(6;7)(D7S522+;D7Z1+,D7s522-). He is bipolar, sensory intigration disorder, sleep disorder, Severe ADHD, Cognatively disabled, receptive expressive language disorder also has 2 webbed toes on each foot. View Answer		2008-03-07


	My daughter, now 22, has an unbalanced translocation of chromosome 4 and 5. She was in relatively good health except for malrotation of the small intestine which she had surgically repaired in 2006 along with removal of her appendix. Recently, she has been having lower abdominal pain radiating around her to her lower back. All tests (ultrasound, CT and x-ray) showed no abnormalities associated with her organs. Was wondering if there are any associated problems with abdominal pain with her rare syndrome. View Answer		2008-02-29


	At approximately 20 weeks I received the results that my quad screen had come back positive. My dr stated that the odds of our baby having down syndrome were 1/140. I then went on to have an amniocentesis performed. My boyfriend and I also had chromosome studies perfromed and we then found out that our little girl has a balanced chromosomal translocation on chromsomes 6 and 9 (which neither of us are carriers of). We went to a genetic counselor at 28 weeks who performed an ultrasound in her office and stated that everything looked normal, except that my little girls femur, humorous, and abdomen were measuring a little small (approx 26 weeks). We were told that there is only a 10% chance of something being wrong with her, but wouldnt know until after birth. I guess my question is, what exactly could be wrong with her and can you give me more information. View Answer		2008-02-27


	My baby was tested for a chromosome abnormality with the results showing a balanced translocation of the 2 and 3 chromosome. Does this mean my child does not have a syndrome? View Answer		2008-02-22


	I am a 35 y/o WF with a balanced translocation on chromosome 7 and 8. My husband and I went through our 1st IVF cycle with PGD and all of the embryos (9) came back abnormal. I understand the general stats on balance translocations, but what are our chances of having some/any normal embryos if we try a second cycle with this particular translocation? Thank you for your response. View Answer		2008-02-04


	My husband has translocation of chromosome 10 and 11 we had a baby at 28 weeks and had chromosomal abnormality after 2 years we decided to try again and we just had a dnc. What is the percentage that our next pregnancy will be a healthy one. View Answer		2008-01-31


	My husband and I are undergoing infertility treatment as my husband has azoospermia (zero sperm). His chromosone analysis shows a balanced reciprocal translocation involving the short arm of chromosone 4 with a break at band4p16.1 and the short arm of chromosone 8 with a break at band 8p23.1. The genetic counselor was not really able to find any literature at all on this translocation. I am wondering if this combination of translocation has been known to be a cause for azoospermia and what are the chances of birth defects and how severe the defects could be. Any help would be appreciated as we are not sure what step to take next.Thanks View Answer		2008-01-15


	My daughter is 4 almost 5 and has a chromosome abnotmality. The report we got from the hospital indicates that is is on her 11th chromosome. The Nomenclature is: 46, XX,add(11) (q25).ish der (11)t(11;14) (q25;q32.3)(VIJyRM2072-,STS-X58399,SHGC-36156,STS-AA034492+) I don't know if you guys know what this means or what we can do to find out some answers. She is about 2-3 years behind where a "normal" 4 almost 5 year old should be. Please let me know how and where to find more answers for this would be located. Thank you. View Answer		2008-01-10


	Hi. I have a translocation that means I have a 50% chance of miscarriage per pregnancy. I am also 37, which means I have a 15-20% chance of miscarriage. Does this mean I have a 65-70% chance of miscarriage per pregnancy? View Answer		2008-01-03


	Hi. I have a balanced translocation at 4 and 16. I was told 44% (approx) of my pregnancies will be miscarriages. I have had one miscarriage that happened very early on and have one child who also has the translocation (other than not balancing my checking account, the translocation has had no effect on me that I know of.) I am currently pregnant and 9 weeks along. I have had an ultrasound showing a heartbeat and everything looking good. What are my chances of mosaicism or trisomy that would lead to a birth but not a balanced translocation? View Answer		2007-12-14


	Hi. We found out our son had a balanced translocation at 6 and 14 when doing a CVS looking for Gaucher's. Turned out that I, the mom, have the same translocation. Our original perinatologist/geneticist for our son said that the only effect this translocation would have is that 50% of my pregnancies would be miscarriages.Now I am pregnant with number 2 (had viability ultrasound w/ heartbeat and measuring normal for 8 weeks) and in a different city w/ a different doctor and genetic counselor. They are saying we still may have problems with a child that did not miscarry by having 3 copies of the 6 and/or 3 copies of the 14. View Answer		2007-12-11


	My child was born w/ a genetic disorder. He was born at Duke Hospital of Durham, N.C. They said that my son had a genetic disorder where he was missing a very small piece of chromosome 9 missing and a very small piece of chromosome 16 added to chromosome 9. Or it was the other way around, I have the paperwork at home. Well I delivered at 36 weeks. He was 3lbs 3oz. he had Tetrology of Fallot, a Colonostomy, and after having to be resesitated 3 times they did a heart catherization that showed he had Pulmonary Hypertension. My son died in my arms at 7mo. 20days. I got blood work done on my self and they discovered that a small piece of my chromosomes 9 and 16 switched places. It seems to me, b/c of this problem there is a possibility that my future children can be affected. Is there a way this can be corrected? Can it be reversed? What exactly does chromosome 9 effect? And chromosome 16? Do those chromosomes have anything to do w/ his heart? Growth? View Answer		2007-12-03


	I have complex chromosome translocation with following abnormal karyotype 46xx t(1;5) (q32 p12) and t(9;13) (p13 q14). I already know that chances of me having a baby through IVF is less 1%. What I want to know is the likelyhood of a pregancy with healty baby if I try to conceive naturally. Thanks View Answer		2007-11-21


	I have a 3 week old granddaughter who has shown a problem with her chromosomes. Particularly between 11 and 12 chromosome. What can it be? My son has to wait til Dec 5th for appointment and is worried sick. Would you have any info to research to get more information. Thank You View Answer		2007-10-30


	I have a child with t(21/21) DS. I understand that this COULD be inherited with the chances being about 1/200. If we are balanced carriers, there is a 50% chance of DS. That figures to about 1/400 which is roughly twice the national risk factor. Does the information I've collected sound accurate? We've been to genetic counseling but have not had the test done for financial as well as family reasons. Do you have any additional info or advice as we plan to have another child? View Answer		2007-10-23


	My son, 14 months, has been identified using CMA (V.5.1) analysis as having : arr cgh 10 q26.3 (RP11-462G8, RP11-140A10)x1,17q25.3(RP11-149I9->RP13-629P20)x3.nuc ish der(10)t(10;17)(q26.3;q25.3)(RP11-462G8-,RP11-149I9+). We've obviously had genetic testing done but were told its such a rare translocation we'd have a hard time finding information. We were told that we would treat each anamoly and situation as it comes. He has been diagnosed with failure to thrive, had an MRI which showed variations in the white matter of the brain. Has a colabohoma (sp) in the right eye's optic nerve. Had umbilical and inguinal hernias repaired as well as hypospaidas (sp) surgery. Has high-arched narrow palate, accessory nipples and ear lobe. Physically and cognitively that of a 6 month old even though 15 months old on the 27th of this month. Is there some type of treatment we have not considered? What does this translocation mean for his development? Are there others out there with this? View Answer		2007-10-16


	My husband and I are thinking of adopting a baby with a chromosome translocation t(5;7), balanced.The birth father is the carrier and is fine. He also has a three year old son, who is also fine. Baby was 2 months premature and translocation was found during hospital testing due to the prematurity of the baby. Upon testing the father, same translocation was found. What are the risks for this type of translocation? Are chances good that this baby will be fine, or are the odds more in favor of some type of developmental disabilities? Thank you. View Answer		2007-10-09


	My wife and i are looking into adopting a 3 month old infant that has a translocation of the 7.5 chromosome and hypoparathyroid. digeorge syndrome has been ruled out and the infant is on a calcium regimen since birth. the infant is tracking normally according to the neonatalolgoist. the biological father is the carrier and has the same translocation with no issues. my question is this....what are the ramifications of this translocation on a person's life. what possible issues can arise from this? in your opinion, what percentage (approximately) would this child lead a normal life. View Answer		2007-10-08


	My husband and I have had four miscarriages and one healthy child. During investigation we found out that my husband has the following "balanced Robertsonian translocation between the long arm of chromosome 13 and the long arm of chromosome 14". We have been told that our changes for a successful pregnancy with this condition is 50%. What I would like to know is what the increased risk is for health problems and birth defects in the baby? Having an amnio after the fact is not an option for me, so I would really like to know our chances for a healthy child before hand. Any information you could provide would be appreciated. View Answer		2007-10-05


	My six year old daughter and I have a Robertsonian translocation of chromosomes 13 and 14. She is cognitively impaired with some autistic like behaviors. Have there been any cases reported of a normal parent carrier with a translocation who has and a child with developmental problems? My daughter has had extensive genetic testing over the past five years and so far this has been the only finding. I have been told that this is not the cause. However, I don't see how they can be so sure about it. Any information would be very much appreciated. View Answer		2007-10-01


	Is it possible that chromosomes 17 and 19 can switch places? If so, is there a named genetic disorder for this phenomenon? Can it cause learning disabilities? View Answer		2007-09-27


	my daughter is 18 months old. When she was born it was noted that she was a little floppy and had a frog like posture. She also had a larger than normal head circumfrence.She has had numerous mri scans which have come back normal. She was unable to hold her head up and was delayed in sitting up. She doesnt crawl or walk and until recently was reluctant to stand up. It was as though she didnt have the strength. She doesnt put on much weight although she eats really well. She has just got some blood test results back which confirmed that all chromosomes are present but one of her number 20 ones is a little longer. When they have looked into this its said to be made longer with a bit of number 1. We are due to see a genetic expert next week but otherwise we havent really been told anything apart from is very rare. could you please offer any more information as im finding it difficult to track anything on the internet. View Answer		2007-09-22


	I am 27, and have had two miscarriages. So my doctor ordered chromosome analysis test. The result are as follows " An abnormal karyotype was found with two independent apparently balanced reciprocal translocations" The Karyotype results are 46xx, t(1;5) (q32; p12), t(9;13) (p13q14). I am devasted, and have been crying ever since I got the results, I have always wanted to have 4 kids, but now I have lost hope. I was referred by my doctor to go to a Genetics and IVF institute; my appointment is 3 weeks from now. What are chances of me having normal pregnancy without IVF, (is it even possible?). Or, if I have to go to IVF, what are the chances of having a healty baby? Thanks View Answer		2007-08-29


	Hi-My husband and I are both 30 years old and we have suffered through 3 miscarriages. After my 3rd, my Dr. discovered, through karotype, that I have a Robertsonian translocation between 13 and 14. She didn't sound very optimistic when she told me of this saying it's something that "cannot be fixed." However, from doing my own reasearch it seems that I have a 50-50 shot of producing a normal egg or an egg with the same translocation as I have. Am I correct in this assumption?What are the best odds for my husband and I to have a healthy child? Would IVF w/PGD be our best option?Also, isn't it true that if I have this location, my mother or father more than likely do as well? I have had extremly high anxiety since my Dr told me of this diagnosis and unfortunately the earliest appointment with a genetic counselor isn't until November 1st so any information you can provide me with would be wonderful! View Answer		2007-08-24


	I have a 9 year old daughter who was born with the following chromosome make-up: 45,XX,t(6,20)(q23,p13) de novo. We were told that she has a "balanced translocation." We are now testing her for dyslexia and other problems related to reading and vision. She has high frequency hearing loss in her right ear and has a pacemaker due to congenital heart block. We understand that the heart block is a result of my anti-SSA and anti-SSB antibodies (I have Sjogrens Syndrome). She had bacterial meningitis at age 6 months, so we assumed the hearing loss came from that. What if anything could be connected to her translocated chromosomes? I know alot of information has become available since 1998 when we first found out about it. Thank you! View Answer		2007-07-26


	My daughter is 14 months old she has the developmental skills for about 7-8 months. She is not crawling and can not go from laying down to a sitting up position. The doctors have told us that her X chromosome and 20 chromosome are connected. They have also stated that they have never seen this before and are not sure what any of this mean. They have no more information. I was wondering if you know any information about this. What is going on with my daughter. View Answer		2007-07-10


	My wife and I have had 1 successful pregnancy and have experienced 5 missed abortions usually around week 9. After investigation we found out that my chromosomes 14 and 15 are translocated. During genetic counseling we were told that only a portion of my sperm carry a complete set of DNA, a portion carry the translocation, and a large portion don?t have 14 or 15. Because of this translocation we were eligible for some advanced fertility treatments. Today we began inter-uterine-inception (IUI). The fellow doing the procedure told my wife and I, after the sperm were washed I had 10 million good swimmers. We were also told by the fellow that a count of 3 million was infertile and a count over 8 million was over kill. Personally we know that although all 10 million have the capacity to produce a pregnancy only the portion will produce a successful pregnancy. My question is, of the 10 million sperm generally speaking what is the percentage of the sperm that will a complete set of DNA and what is the percentage will carrying the translocation, as theses are the only two options will provide a successful pregnancy? View Answer		2007-07-10


	My daughter has a partial duplication of chromosome 7 at the p21 location and a partial deletion of 8 at the p22 location. The extra part of 7 is translocated onto that missing end of 8. It has been nearly impossible to find any information on this abnormality. Do you have any information on either of these??? View Answer		2007-04-23


	Upon the amnio of my son, it was found that I am the carrier of a balanced reciprocal translocation - between the long arm of chromosome 7, breakpoint in 7q32 and the proximal long arm of chromosome 17, breakpoint in17q11.2. The same translocation is seen in my son. Further testing concluded that my mother was the carrier. My daughter has never been tested. Would she more than likely be a carrier also? From what I have read, fertility could present a problem for my son. What happens if two people with this sort of abnormality have children? Is a gene mutation such as this common? Am I abnormal? View Answer		2007-04-19


	I am a clinical geneticist in Guatemala city. Couple weeks ago a 34 years old german man came to my office with a chief complaint of infertility and azoospermia. A chromosomal analysis was done and showed a translocation between a long arm of crhom 2 and the short arm of chrom 16. We have not experience with this type of translocation neither how do counselling and advice.Can you give some information and literature about this pathology. View Answer		2007-04-18


	I am a 32 yr old woman with a healthy 3yr old daughter Ihave had 7 miscarriages, 6 since having my daughter. In 2005 I was diagnosed with a balanced reciprocal translocation between the long arms of one chromosome 2 and one chromosome 18. My pregnancies last no longer than 5 weeks Why did I have a healthy girl in my 2nd pregnancy but now continue to miscarry? View Answer		2007-03-23


	We are interested in adopting a child who has a Balanced Translocation. The child is 2 years old, and is developing at an age appropriate level. She has no known delays at this time. Is it possible that the Balanced Translocation could cause learning problems or medical problems for her down the road? I am hopeful that since she is developing on target now, there is a good likelihood that the chromosome disorder will not cause any problems for her. I am aware that she will have infertility problems down the road. Thank you for your time! View Answer		2007-02-28


	I am a female carrier of trisomy 13 .what is the probabilty of me having a child that does not suffer from, or carry, trisomy 13 syndrome? View Answer		2007-02-14


	I JUST RECENTLY FOUND OUT THAT MY SON HAS THE TRANSLOCATED DOWN'S SYNDROME. WE ARE TOLD THAT THE EXTRA TRISOMY 21 GENE IS ATTACHED TO THE Y CHROMOSOME. SINCE WE DON'T KNOW WHAT TO EXPECT DIFFERENTLY AS HE GROWS, WE ARE LOOKING FOR SUGGESTIONS. HE IS 16 YRS OLD STANDS ABOUT 4'10'' AND WEIGHS IN AT ABOUT 97LBS. HE IS PHYSICALLY PRETTY STRONG AND VERY STUBBORN. View Answer		2007-02-06


	My grandson (my son's son) has had difficulties since birth with developmental issues. Our specialist at Hershey Medical Center ordered a chromosomal study and the results are rearrangement of chromosomes 12 and 17 with there being an additional chromosome on 17. I have been looking for information on this and have not found much. Our follow up appointment isn't for a month and I'd like to know if you could give us some insight into this. He has a mixture of symptoms from Angelmans Syndrome and Smith-Magenis syndromes. His head is flat in the back he is blond haired and blue eyed ( no one else in the family is on either side), he is 2 1/2 years old and has just begun to walk, albeit functionally assisted. His developmental therapist has said he is functioning at about an eight to fourteen month level. We know that we have what we have and he is a wonderful and fantastic child but any information we can obtain to help him reach his fullest potential would be helpful. View Answer		2007-01-05


	Hello, I am writing with concern of my 10 year old daughter. My husband and I experienced three miscarriages and then a still born 32 week gestation son. We went through genetic testing and it was found that my husband and our son had a balanced translocation on chromosomes 11,13. While pregnant with my daughter we went through CVS, and she was found to have the same thing on the same chromosones. She was born healthy, although she was meconium stained amniotic fluid and did require positive pressure ventilation briefly, and then become jaundice. The concern is from the day she came home she has been a handful, I tell myself she is headstrong, but she is very emotional, always has been. Her moods change on a dime. She has the broad nasal bridge with noone on either side of our families having that. Her eyes are brown/hazel. They do have flecks of yellow. She can not just have normal conversation, she has to talk loudly..at least once a hour we are telling her to lower her voice, although she doesn't see it. She has had difficulty with school, mostly with math. I have noticed a few small white patches on her, in fact, when she was about a year old, I had her at the doctor for it and they said she had eczema. I am a registered nurse and have been for 8 years so I am somewhat familiar with these things. I would appreciate your input, I am just unsure to what extent if any, her balanced translocation has on everything. Thank you for your time. View Answer		2006-11-28


	In a family with a history of 13;14 Robertsonian translocation, and miscarriages, what is the best test to use for testing at-risk members of the family? Is it FISH or CGH microarray? Or is it something totally different? View Answer		2006-10-27


	What, if any, problems may occur with the translocation of chromosomes 2 and 16? View Answer		2006-10-06


	What causes Translocation?I have a chromosome split of 9 on 13. Will that cause any health problems? What kind of birth defects can translocation cause? View Answer		2006-09-22


	I have a student 2 years old in my Early Intervention Program who's parent shared with me that he has a balanced translocation of the genes 11 & 22. What does this mean? He has a significant delay in all domains (cognitive, speech and motor). I s this considered a syndrome? if so, what syndrome could it be. He also has life threatening food allergies and consistently breaks out with rashes and/or excema (spelling?). Please give me any info. you can about this. View Answer		2006-09-21


	I have been diagnosed as a translocation karytotype female. The reports states the following " All metaphase cells analyzed were abnormal and showed a count of 46 with apparently balanced reciprocal translocation involving a portion of the short arm of one chromosome 4 at band 4p16, and a portion of the long arm of chromosome 19 at band 19q13.1". it further says that I am at risk of having a child with an unbalanced chromosomal rearrangement, with phenotypic consequences. What does this mean? View Answer		2006-07-20


	My son was born in 1986 with Aniridia, Glaucoma, Nystagumus, Cataract.His chromosomes were tested his is karyotype is 2 and his findings were in 46, xy, t (4q 11) (q1313p).They say his # 11 caused the Aniridia, but they say the evaluation of the translocated chromosome did not show any definite evidence of material missing, he did not have the abnormality of the Wilms Tumor chromosome p11. What research has been done on these type of Genetic's? His Dr. says he recommends for him to have a vasectomy. His his odds for having a child born with this genetic that bad. They say his kind of chromosomes are very rare. View Answer		2006-06-24


	My husband has a balanced reciprocal translocation of chromosomes 1 and 13. He also has oligozoospermia, which may be caused by this translocation. We are considering going through ICSI, but would like to know the risks involved, and the probabilities that a child may have trisomy 13, resulting from my husband's translocation. We would really like to know some statistics so that we can decide to try ICSI, or take the next step of considering sperm donation. View Answer		2006-06-19


	My daughter, age 32, was pregnant for the first time and went for routine visit to OB at approx. 10 weeks. OB found no heartbeat (she had already had first ultrasound and heard heartbeat at first visit to OB). OB did ultrasound and found that fetus had died. She had D&C the next morning. First loss occurred in early December, 2005. She was told to try again after one cycle, and she got pregnant again and the same thing happened again at almost the exact time in the pregnancy. This time the OB sent fetal matter for examination. Report showed presence of Robertson's Translocation and that baby was a girl and had Trisomy 14. OB then suggested genetic testing for my daughter and her husband. Results from my daughter's test came back yesterday. Results showed that my daughter has only 1 (one) chromosome 14. However she has 2 (two) chromosomes at chromosome 13, plus part of chromosome14 at the chromosome 13 spot. The OB thinks this is why she lost both pregnancies. However, she told my daughter that she had a chance of conceiving and carrying a normal child, even though she has this disorder. She told her it all depends on which of her chromosomes the egg takes. I don't know the proper terms for all this since it is so new to all of us. However, my daughter is devastated. She's lost two babies and she's wanted to have children her whole life and has waited until she was older to find "the perfect father" for her babies. Now this has happened to her and she doesn't know whether she'll ever have any child. Can you tell me whether there's any hope for her, whether every child she conceives will be abnormal, and what this means in terms I can understand. I've searched the internet and some of the "markers" etc. are just so hard to understand if you have no training in this field. We have absolutely no history of this in our family that we know of on either side. Any help you can give me will be more appreciated than I can possibly express to you. Our whole family is devastated for her. View Answer		2006-05-31


	I have twin boys, one of whom has been diagnosed with a an unbalanced translocation of chromosomes 1 and 11. They will be testing the other twin for the same thing. I just really wanted to know what this could mean. I tried doing the research online, but I can't seem to find a site that puts it in simple terms. Please help me to get a better understanding. View Answer		2006-04-20


	During the course of tests for Fertility treatment - we have discovered I have a Chromosome translocation 13 - 14, Patau Syndrome. If my wife tests negative for the same, what are the chances of us having a baby with Patau's and what prenatal tests are available? Should my sister and her sons be tested? Thank you for your time, this is causing my wife and I a considerable amount of stress. View Answer		2006-03-27


	My boy was diagnosed with a trisomy 12q and 9p.I would like more infos about those two syndroms Thank you View Answer		2006-03-21


	I am a 29 y/o female and I am a carrier of a balanced translocation of 6 and 7. My first born died from holoproensephly he had trisomy 6 monosomy 7, died at 11 days old. My daughter was born at 26 weeks gestation had trisomy 6 trisomy 7 (I believe they may be backwards) she died nine days short of her 7th month. My third pregnancy became a "theraputic abortion". His amniocentisis came back severly distorted. My second husband and I had a little boy in 2002 he has monosomy 6 trisomy 7. He is now 3 1/2 years old. Because he has lived so "long" no one knows what will happen to him. He has several medical issues. None can be directly pointed toward the "fault" of chromosomes. I can't find any answers at all. My main question is Will I ever be able to have a healthy child? if there is a chance I would like to know before I become to "old" and fall in the down syndrome candidacy. View Answer		2006-02-21


	My son has been seeing a Genetics doctor for awhile now. It was thought that he had the Williams Syndrome but tests showed normal and the doctor said we should just keep testing until we find out what is going on. My question is, is there a certain test that shows or I'll say pinpoint the problem? I have a feeling this is going to be a long road and we are willing to take it but blood test after blood test, and all of the agony (I just wish is was easier.).Can you tell me something? Maybe there is something I haven?t done or thought of. We had a ?Subtelomere" test ran today. I am hoping to find out something soon. View Answer		2006-02-17


	: My paternal grandmother carries a balanced translocation. This condition is repeated in grandmother's daughter, in her granddaughter, and in her great-grand daughter. Her granddaughter's first pregnancy resulted in a female child born with an unbalanced translocation. The child lived for 13 minutes after a full-term pregnancy and vaginal delivery. At the time, there was very little information. She has had two healthy children since them. In both pregnancies she had an amniocentesis. One of the children carries the translocation. I also have three children, none of whom have exhibited any chromosomal problems. Now, my son and his wife are expecting a child. The questions in the prenatal questionnaire made me wonder. Can males be carries of this chromosomal problem? Should my son and his wife have genetic testing? I have not been able to find out much about this condition. Can you help? View Answer		2006-02-16


	my child is a 2 year old boy who has a rare chro disorder 15p 18p are translocated a very small piece and he has epilepsy and delays and vision impairments what else is this rare mix up suppose to do to his body i was told it is rare is there any one else out there with this disorder. View Answer		2006-01-12


	I am a 35 year old female who found out a year ago that I have a balanced reciprocal translocation between my 7 & 13 chromosomes. I just had my 5th miscarriage with none lasting longer than 9 wks. Realistically, what are my chances of having a successful pregnancy on my own? What are the ramifications of having this particular translocation. View Answer		2006-01-09


	I have just been told that I have a balanced translocation between chromosones 14 and 17. My husband and I have been trying for ababy for almost 4 years, with one known miscarrige at 7 weeks. I cannot find any articles on this translocation. Can you please provide me some information as to whether we will ever be able to have a HEALTHY baby and carry to full term? View Answer		2005-12-08


	My 32 yo daughter has a healthy 21 months daughter. She has experienced 2 miscarriages in the past 12 months. POC analized showed an abnormal karyotype trisomy 14 male.(46xy (13;14) (q10;q10) +14...After going for genetic testing she was found to have a balanced translocation of chromosome 13 and 14 (q10;q10). She was told that she had a 30% change of miscarrying again...that no live births have been documented with trisomy 14....my question is can she conceive and carry a trisomy 13 baby? The genecist insested that it was important for her siblings to be checked as well. My son has 2 healthy sons. Should he? View Answer		2005-11-07


	I am 34 years and I have been pregnant three times. All three times I have lost the baby. Through the last miscarriage we found out the baby had an unbalanced translocation. We were referred to a geneticist and now have found out that I have a translocation between chromosomes 12&17. I was wondering what the odds are of having a healthy pregnancy and a healthy baby. View Answer		2005-10-27


	My 13 year old son has a rare genetic disorder that consists of Kariotype: 47, XY, t(9,15) (q34.3;q13), plus (15) t (9,15) (q34;q13, basically means trisomic for 15pter to 15q12 and 9qter to 9q34.1. He has had two genetic testing; the first was at 1 years old. We were told that he had Prader willi syndrome, then at around age 5 a fish study was done by Dr. David Ledbetter. My son is developmentally delayed and has many behavioral issues; he also displays occasionally stiffness on one side of his body and has allergic reactions. My questions is if there is a more intensive genetic testing that could be preformed for my son to determine more detailed information about his condition (i.e. medical issues, prognosis); he has not developed all the symptoms of the Prader Willie syndrome. View Answer		2005-10-27


	I have a balanced translocation between chromosomes 7 and 11. Where can I find out information on this, my wife and I have had 4 mishaps. View Answer		2005-10-19


	I have a balanced translocation of chromosomes #9 and #22 and have had 4 miscarriages. I was wondering if it was possible to have Preimplantation Genetic Diagnosis done? View Answer		2005-10-19


	I am 22 weeks pregnant and I had an amnio a month ago. The results came in and the baby has a balanced translocation 11;22. My husband and I have been tested and we have normal chromosoms, so the baby is de novo.My question is what are the chances that the baby will have health problems and what kind of health problems. He will be born with health problems or they will develop later? How common is this translocation? Do you know any web site with more info? View Answer		2005-09-21


	Hello I have a 2 1/2 year old son who was born with an unbalanced translocation between 18 and 3; he has partial deletion 18 and partial duplication of 3. He was very sick when first born with several problems needed to be ventilated for 10 days, developed very high bilirubin levels, spent first 15 months oxygen dependant, poor feeding,(his size is below the 0.4th percentile), developmental delays and physical delays, he is very low tone doesn't sit up unaided can't crawl or walk he only babbles, he is very long sighted, deaf in left ear, mild pulmonery stenosis, subseptible to infections (low immunity) always goes to his chest, and dislocated left hip, rocker bottom feet, very manouverable joints (double jointed), he also started having fits/seizures about a year ago but when he gets them they last about 15 to 60 minutes, he actually had a seizure the other night which he needed to be hospitalized and lasted an hour and I almost lost him. Its very worrying as we do not know the life expectancy and not knowing what the future holds for him. We have a geneticist here in Wales but doesn't really give a lot of information do you have any answers? View Answer		2005-09-14


	I am 22 weeks pregnant and my amnio showed that the baby has a derivative chromosome 7 with translocation between 6 and 7 with the end result of trisomy chromosome 6p21.3 Please tell me what this means: will the baby live; will he have any quality of life; the geneticist made the comment that some of the cells were normal - what does that mean? View Answer		2005-09-14


	I am 27 years old and my husband and I have been pregnant so far 4 times; all 4 times I have lost my pregnancies early at approx 7 weeks or so. After several tests they found out that I have a balanced translocation in chromosone number 15 and 17 that they switched places. My mother had 4 miscarriages after my brother and I and then had my last brother. I am hoping that there is hope for me also I am devestated that I have lost these pregnancies and hope that you can give me some info and enlightenment. View Answer		2005-09-14


	I am 6 weeks pregnant and I have had three previous miscarriages. I have a balanced translocation and the last pregnancy the fetus had an unbalanced translocation of chromosomes 7 and 8. Can you tell me what the chances are of a normal pregnancy? My husband has also been tested and is normal. View Answer		2005-09-14


	I am a 28 year old with 2 healthy children (7 and 2). I just found out after 3 miscarriages that I have a balanced translocation betweeen chromosomes 19 and 20. I have tried to research it, but the only article I found said it was extremely rare, and gave no information. I want to know what % I have to carry to term, and what kind of birth defects might happen if I am able to have a full term baby. I don't understand the sudden miscarriages, given I already have two children. Any information you have on this condition would be greatly appreciated. View Answer		2005-09-14


	I am a carrier of a balanced translocation between chromosomes 2 and 4. My karyotype is 46,XX,t(2;4)(p22.2;q32.3). I am pregnant now and wondered what my risk ratio is with this specific translocation? I have had one child naturally with normal chromosomes, 2 miscarriages, and one child through IVF/PGD. View Answer		2005-09-14


	I am a speech-language pathologist. We are testing a child for services in the school system. This female child has a diagnosis of "unbalanced translocation of chromosome 2/17." We were hoping for some information about this particular unbalanced translocation (i.e. prognosis, capabilities, signs/sympotoms, etc). If you have information, we would appreciate it. View Answer		2005-09-14


	I am dating someone who just told me that he is a carrier of balanced translocation. He inherited it from his mother who had many miscarriages -later in the pregnancies, and which he is the only child. After the little research from your website and others, I am learning about the disorder, but I would appreciate if you could send me more information, or help guide me in the questions I should be asking. I am curious as to what the effects are -is it different if the male is the carrier? What are the statistics and percentages of miscarriage and birth defects? What kind of birth defects? Are the risks that much greater than any other couple having a miscarraige/birth defect? Would our children be carriers? Does it depend on what the chromosomes are? View Answer		2005-09-14


	I am trying to find information about the genetic disorder partial trisomy 6. My autistic son inherited this from his father and the father did not know until our son was diagnosed with this that through a blood sample he had given this to our son. Nobody knows anything about this and I am concerned about how this relates to his autism and how to deal with this on an everyday basis. Please shed some light on this subject because nobody will tell me anything about this or why my ex and son have this. View Answer		2005-09-14


	I have a balanced reciprocal translocation of chromosomes 12 & 18. My identical twin, older sister and mother all have this problem. My twin has one healthy son then terminated a pregnancy of a female baby with deletion of chromosome 18. Then she had two more pregnancies that she terminated early due to CVS results. She was then able to give birth to a healthy baby girl with the balanced translocation of 12 & 18. I have a healthy eight year old son (chromosome arrangement unknown). In the last 1-1/2 years I have had three miscarriages, one with a known deletion of chromosome 18. I have done two failed IVF cycles. Of 7 fertiled eggs, only one was genetically normal. I am going to be 34 y.o. this month. What are your recommendations? I'm thinking of trying one more IVF cycle and then go back to trying naturally. What are my chances of ever having another healthy child? View Answer		2005-09-14


	I have a balanced translocation between chromosomes 6 and 15. My brother was born with a host of difficulties including dislocation of the hips and knees, cardiac valve problems (which resolved itself by age 10) learning difficulties and he passed away at the age of 28 of kidney disease. We do not know if he had an unbalanced translocation because he was never tested. (He died in 1990). I have a 12 y.o son with an unbalanced translocation. When he was born he was very small (3lbs.) had a hypospadeous, and a club foot. To this day he is very small, and has a lot of eating issues (chewing, gagging). He also has many learning difficulties and his receptive language is much better than his expressive. Has there been much research done on this translocation and if so what should I be on the lookout for in my son in the future? I would like to be able to head off any difficulties he might run into as early as possible. View Answer		2005-09-14


	I have been diagnosed with a balanced translocation of chromosomes 1 and 5 which I inherited from my father. My parents had 4 healthy children and 2 miscarraiges. My first baby, a boy, was born premature at 26 weeks, 3 months ago, he was diagnosed with an unbalanced translocation of chromosomes 1 and 5. We had been trying for a baby for 18 months before my son was conceived. We did not have any confirmed miscarraiges up to then. I am now 5 weeks pregnant. My understanding is that these chromosomes are two of the largest. I also understand that due to the importance of these chromosomes if the foetus is unbalanced it is likely to miscarry. I also understand that it is unlikely I would carry an unbalanced baby for as long again? I am naturally very concerned right now and would appreciate any advice, learnings, similiar examples that you could share with me. Many thanks. View Answer		2005-09-14


	I have recently found out I have a balanced translocation. I have had one healthy baby, and as many as four early miscarriages. Three for sure. My son is 3. I am scared to death of getting pregnant anymore. I have heard that the risk is only about 30% for miscarriage with my problem. Why am I not living up to these odds? View Answer		2005-09-14


	I know this might sound like a stupid question, but I have the tips of chromosomes 6 and 9 exchanged. I am only a carrier and have luckily not been affected by this but is it still possible for me to donate blood? And one more thing...is it possible to get the translocation between chrom. 6 and 9 fixed? View Answer		2005-09-14


	I'm a 37 year-old woman. Last year I got pregnant with my first baby. My first baby had trisomy 13 and we did not continue the pregnancy. I'm now 14 weeks pregnant with my second baby and now they found a translocation between chromosomes 1 and 7. It is a balanced translocation but we (parents) are not carriers. So it's a new translocation. I've been told that there is a 10 % risk that my baby can have mental retardation. I don't know what to do. I want to have a healty child. We are both very healthy but this is my second troublesome pregnancy. View Answer		2005-09-14


	My 30 year old daughter is pregnant, after 2 miscarriages, and is 4 months along. She just found out she has a balanced translocation affecting chromosomes 1 and 6. She had an amnio Friday, but is worried about the results. What are her risks that the baby will be affected and what could be the affects to the baby? View Answer		2005-09-14


	My brother's third child was born with partial trisomy 6p and partial monosomy 18q. Subsequent testing has shown that my brother is a carrier of a balanced translocation. I have been advised that this means that I am at risk of being a carrier also. I have two normal, healthy daughters and will not be having any more children. Would it make more sense for me to get tested or should my girls be tested for the possibility of being carriers of this translocation? I had an amniocentesis done with my second pregnancy and the results were normal. Does this mean that my daughter is not a carrier? Finally, can you please tell me what the life expectancy is for a child like my nephew with partial trisomy 6p and partial monosomy 18q. View Answer		2005-09-14


	My daughter has been diagnosed with an abnormal chromosome. A segment of chromosome 4 is attached to chromosome 1. My husband and I have had blood drawn and are anxiously waiting for answers. If the work-up shows that neither of us are carriers of the chromosome rearrangement, is there something we can do to find out what caused this random abnormality so it doesn't happen again with our next child? View Answer		2005-09-14


	My ex-husband is a carrier of a balanced t(6;8),(p21.3;q24.3). How can it affect my children? View Answer		2005-09-14


	My first cousin and his wife have had three miscarriages and recently found out he has an inherited balanced translocation of chromosomes 5 and 15. If I have inherited the translocation, would the same chromosomes be translocated (5,15)? Is there potential for birth defects with this translocation and if so what is the percentage? What is the percentage of a normal couple having a child with birth defects? View Answer		2005-09-14


	My husband and I have been trying to conceive for 2 years. I have had 4 miscarriages and after the first 2 we were both karyotyped as normal. After the 4th miscarriage the POC's were sent for genetic testing and found to have an unbalanced translocation. My husband and I were both re-karyotyped and he was found to have a balanced translocation between chromosomes 1 and 11. We have already gone through 2 cycles of IVF without PGD since we didn't know of my husband's carrier status until recently. We are trying to decide between going through another cycle of IVF with PGD versus donor sperm. How likely is it that the translocation would be able to be detected with PGD? Our fertility doc advised that she feels that our best shot is with donor sperm since chromosome 1 is involved and the last baby/POC's were monosomic for chromosome 1 and trisomic for chromosome 11. I guess I am just looking for someone else to tell me that donor sperm is our best bet. Also my husbands semen analysis is abyssmal. He has <1% normal morphology, almost no motility and forward progression but close to normal numbers. View Answer		2005-09-14


	My husband and I recieved chromosome test results back from our specialist. We've had 3 miscarriages and it seems that the results have detected a balanced translocation between chromosomes 1 and 7. This is all very new stuff to us and preliminarily I'd like to know what our chances of having a "normal" healthy baby are in the future. My husbands' parents and siblings will now also be tested to see if they carry the same rearrangement.I'm also wondering if there are certain birth defects that are known to happen with this arrangement as well. View Answer		2005-09-14


	My wife and 4yr old son both have a balanced translocation between chromosomes 5 and 9 (p15.3;p24). We currently have a third on the way. My concern is the probabilty of an unbalanced. We are considering amnio or CVS to confirm nothing's wrong, but are worried about the chance of a miscarriage of a healthy baby. My questions are: 1)Is an amnio or CVS recommended for this type of familial translocation? 2) If so, does my wife have less of a risk with these procedures since she's had very smooth going pregnancies? View Answer		2005-09-14


	My wife and I had an amniocentesis and the results came back indicating our fetus is 46 X,Y with a balanced reciprocal translocation between chromosomes 5 and 19. Can you provide more information on these specific chromosomes. My wife and I are having karyotyping done to see if either of us are carriers. If this is de-novo what are the chances of having an abnormal fetus. Also, how common is this seen? View Answer		2005-09-14


	My wife and I recently lost a child who was diagnosed with translocation Down syndrome...We were both blood tested to determine if we were carriers fortunately neither of us were. What were the probabilities that either one of us would have been carriers? View Answer		2005-09-14


	Our eldest son was born 12/29/86 and was diagnosed with "an apparently balanced reciprocal translocation between the long arms of Chromosomes 7 and 8. The translocation appeared balanced, and neither parent had the same translocation." When he was born he had club feet, dysmorphic features and hypotonia as well as a simian crease in his left hand. He has never spoken and just started having seizures within the past 1 1/2 years. He is taking Depakote 2x/day at 500 mg with morning and evening meals. He has been diagnosed with cerebral palsy and is mentally retarded. Presently, he is about 4 feet 7 inches and weighs 62 lbs. Can you provide me with any information regarding this translocation, the prognosis for adult life, etc.? View Answer		2005-09-14


	We have just been told that our 15 y.o. daughter has a balanced translocation of one of the X chromosomes and chromosome 10. We have been referred to an endrocrinologist and to genetic counseling, but are waiting to hear back from both departments for appointments. Can you give us any information about this condition? View Answer		2005-09-14


	What does the translocation between the 7 & 13 chromosome mean and what effect does this have on me wanting to have a baby? View Answer		2005-09-14


	When our son was a 6th grader he had a tumor removed from his shoulder and when they sent this in to the lab they discovered that he has a balanced 1q42;7q22 translocation. They said that this is a constitutional abnormality. What does that mean? He is now a senior in high school and his sister had her third miscarriage in a row in Jan. of 05, she miscarrided each time at 5 and 6 wks. She is now 8 wks pregnant and there is a strong heart beat. Things look well, I was wondering what is the percentage of having a healthy baby knowing that she too probably is a carrier of the balanced translocation? I had three healthy children and two miscarriages. Looking back into my family of 20 grandchildren, 13 children and 2 great grand children there are not abnormalities, but several miscarriages. View Answer		2005-09-14


	Where can I find an article about translocations between chromosome 5 and 12? View Answer		2005-09-14

Add to Favorites


Home	About	Site Map	Disclaimer	Terms of Use

Copyright © 2009 by Emory University. All rights reserved.