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Microdeletion & Microduplication Syndromes
Q&A about genetic disorders that result from a submicroscopic missing (deleted) or extra (duplicated) piece of a chromosome. A microdeletion syndrome is a collection of clinical findings/health problems caused by the absence of a submicroscopic piece of chromosome material while a microduplication syndrome is caused by the duplication of a submicroscopic piece of chromosome material. "Submicroscopic" means the missing material is too small to be seen under an ordinary microscope, when doing a standard chromosome study. Examples include deletion 22q11 and Williams syndrome.
Subtopics
Asymmetric crying facies (1)
Cayler syndrome (1)
Chromosome 1 (2)
Chromosome 14 (1)
Chromosome 17 (6)
Chromosome 2 (1)
Chromosome 22 (34)
Chromosome 3 (2)
Chromosome 6 (1)
Chromosome 7 (1)
Chromosome 9 (1)
DiGeorge syndrome (12)
General Questions on this topic (2)
Miscellaneous/Unclear Diagnosis (9)
Strong syndrome (1)
Velo-cardio-facial syndrome (VCFS) (3)
William syndrome (11)
No Sub-topic (0)
Showing 89 questions
Displaying: All questions - use the list above to filter results.
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My daughter has been diagnosed with 22q deletion. I have been trying to research all of the possible effects of this disorder. Can you tell me if there has been any evidence that 22q deletion affects the reproductive system? She is 14 and a half and has not started menstruating yet. I know that this is not terribly late, but I wondered if there was any possible connection.
Thank you. View Answer |
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2009-11-17 |
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Do you have any information on Chromosome 1 q 21.1 duplication? I am particularly interested in long term outcomes of children with this defect. What diseases are associated with this genetic defect? View Answer |
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2009-10-10 |
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My wife have a two year old with 1p36 chromosome deletion. We just had our second child last week. What are the chances of her getting this condition since her older sister has it?
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2009-10-08 |
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How long does the person live.Can they survive a long time.My grandson has digeoge syndome.Please answer View Answer |
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2009-09-10 |
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My son was recently diagnosed with two micro deletions in the short arm of chromosome 6. One at the bottom close to where the short and long arm connect, and one at the end of the arm. He is 4 1/2 has had surgery to repair Tetrology of Fallot, is not speaking, and and has low muscle tone. We are unsure of what else to possibly expect. If you have any information of help please feel free to share. Thank you.
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2009-09-09 |
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I know of a family with a child micro deletion of 17q12, i understand there are only around 9 diagnozed with this disorder in the world.
please can you shed some light in regards to this chromosone deletion and i know its only a 1/4 of chromosone missing.
i would like to know as much as possible i believe that it is only children that so far have this.
i am finding it difficult to get research as there has not been any previous cases known in adults.
thankyou kindly
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2009-08-20 |
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Can I have 22q11.2 deletion and so no signs or symptoms? View Answer |
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2009-08-19 |
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My daughter has DiGeorge Syndrome. She is 13 years old and starting to realize she is not exactly like the other children. She has always been a sweet little girl with a heart of gold. I started having trouble with her about 2 years ago.It seems to be more than the usual "teenage" problems. For 13 years I have had trouble finding any help. If its not because of her insurance that we get turned away, its because of her condition. It seems as though many people, including physicans, are not familiar with DiGeorge syndrom so I always get "I am sorry, there is nothing we can do for you". Where can I turn for help. I am at my witts end. thank you for your time. View Answer |
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2009-06-23 |
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I have a child in my homebased program through Community Action Council that provides in home early childhood education to low income families. The child has been diagnosed with hypothyroidism hypotomia, and chromosome 1 and chromosome 20 abnormalities through microray testing, this is all we have been told. The fragile x testing came back normal. Is this enough information for you to even speculate what I am looking at as far as health and or mental issues that this child may occur?
Thanks for your time.
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2009-06-11 |
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My child is 5 and she has 2 q37 deletion syndrome, she is overweight is this linked to her syndrome somehow?? Or could there be other underlying problems?? View Answer |
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2009-06-05 |
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My son is 6 years old and has chromosome deletion 22q11. I was wondering what the symptoms are of this condition? He has speech delay, he is short for his age and has a large stomach and never seems to get the full factor when eating. He also urinates in his pants throughout the day and night, probably 7-10 times in a week. Are these symptoms normal or should I get him in to see a specialist? Thanks for your help. View Answer |
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2009-05-07 |
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My daughter was recently tested for Albrights syndrome, she was negative for that. The findings on her blood tests was chromosone 9 duplicate q 12. I can not find and information on this. I would like to even see a picture of it but it is rare i guess and i cannot find it anywhere. How do i find out in english what this really means to my daughters life? I also wanted to ask, my dad is a vietnam war veteran, he was over there when they dropped the ageand orange or however you spell it, could this have caused the issues she is having? View Answer |
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2009-04-17 |
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My daughter is going to have a total Genetic work up. We have questioned her as having 1p36 Deletion Syndrome. How do they do this test? She is 2 years and still has central apnea and asthma and she only has 30% of her hearing because her ear drums don't vibrate. It is not fluid. She has repeatedly had Pneumonia. Her speech is very little and she has trouble swallowing food. She will chew but will spit it back out when she can't swallow it. She is underweight and under height for her age. Motor skills are good and she always wants her hands covered with socks. Do you agree with 1p36 Deletion Syndrome or do you have another idea of what can be wrong and how will they do the Chromosome tests? View Answer |
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2009-04-14 |
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I have a 4yr-old son who has 22q.11 and was recently diagonised with ADHD by a neurologist. He was given a prescription of Adderall, but we d/c meds due to aggressive behavior. Just recently he was put on Vvyanse. My question is should we start this medication and if so, what are (is there) any studies of side effects with childern that has 22q.11 syndrome? Is there any suggestions on where and who I should contact about this?
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2009-03-30 |
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My four year old globally delayed child had fish testing which was negative, methylation testing which was negative and CGH microarray testing which showed microdeletions on chromosomes 3p14.2 (.15Mb deletion) and chromosome 6p25.3 (80 Kb deletion).
The geneticist we saw at Einstein University and the geneticist we saw at The Institute for Basic Research both said that these are normal variants in regular people too and therefore we cannot blame his condition on these deletions and that one of the parents probably handed it down so we should do a CGH microarray on ourselves. We did and there were no microdeletions found on any of us. So what does this mean? View Answer |
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2009-03-24 |
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DO YOU HAVE A DATA BASE OPEN TO THE PUBLIC FOR RARE CHROMOSOMAL DISORDERS? MY DAUGHTER WAS BORN WITH SEVERE HYPOTONIA AND SOME BIRTH DEFECTS. WE SEE MANY SPECIALIST AT AI DUPONT CHILDRENS HOSPITAL, INCLUDING GENETICS. THANKS TO A NEW TEST FOR CHROMOSOMAL ABNORMALTIES WE WERE ADVISED LAST YEAR SHE HAS A 3q21 MICRODELETION. I AM INTERESTED IN ANY STUDIES, IF ANY HAVE BEEN DONE FOR THIS DISORDER. ALSO IF THERE IS ANYONE ELSE OUT THERE DOCUMENTED. View Answer |
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2009-02-25 |
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My child has 22 deletion. If I were to have stem cells from dental pulp harvested wouldn't those stem cells also have the same genetic problem? View Answer |
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2009-02-24 |
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What is Strong Syndrome? View Answer |
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2009-02-19 |
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My 7 yr old daughter has had constipation since infancy, multiple ear infections and repeated uti's and kidney infections. Our nephrologist now believes we have a duplicate ducts. She was diagnosed with OCD at age 4 and now our psychiatrist thinks we might have vcfs. She does exhibit several of the symptoms listed for this syndrome. What test is the best in helping us determine if she has a 22q deletion? How long will it take to get results? View Answer |
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2009-02-11 |
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My little girl is now 7 and has Di George Syndrome. She has been Type 1 Diabetic since 6 weeks after her open heart surgery to repair her fallots around 4 years ago. She is running from hypos to very highs constantly e.g. she can be 2.4 then go to 24.1 the same day. None of the Diabetic Specialists know much about Di George Syndrome and they have tried every regime to get her sugar levels stable but to no avail. I am wondering if Di George plays a part in the diabetes being so erratic as she obviously has added problems e.g. low muscle tone, learning difficulties, immunity problems (although the immunologist reckons she keeps very well for a Di George child) all caused by Di George. Is there any links causing the Diabetes to be so erratic that Di George syndrome would cause as obviously the highs and low sugars are affecting her behaviour, attention span, how she feels and performs in general and is there anything that can help this or we can do to change this. View Answer |
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2008-12-17 |
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My question is posed to resolve an internal debate in the midst of the usual family tension. Is possible to be a person with Velocardiofacial syndrome having average to above avg. intelligence, let alone not look like they do? I also have type 1 diabetes (age 10), hypothyroidism, (20) and PTSD, depression, anxiety, paranoid personality (bullying survivor), and possible bipolar. I?m angry at doctors using ASD automatically for all VCFS cases. I was tested (3), but found to be 2+ yrs above my age, despite not talking much due to my voice. I wasn?t ASD? My opinion on ADD reflects Thomas Armstrong's. It hurts others struggle more. I have a creative writing BA, an AA in creative writing and one in anthropology. Meds include trileptal, 150 MCG, ARMOUR, 90 MCG with results, since synthetic was not at all without side-effects, such as insomnia, my usual state at times. I take a half-tablet of lexapro in the morning, and 2-4 Seroquel, leaves me sleepy, switching to Lamictal. View Answer |
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2008-12-08 |
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what is the long term prognosis to 17q21.31 microduplication? View Answer |
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2008-12-01 |
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In January, 2008 my niece gave birth to baby with severe cardiac problem (Ebstein's Anomaly). The baby died after 9 days. The physician suspected DiGeorge and genetic testing revealed that my niece has a microduplication at 22q11. My niece has no symptoms. It has been suggested that my niece's 2 siblings be tested. I (maternal aunt) have 3 children of reproductive age. Should I or my three children be tested for the microduplication? View Answer |
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2008-11-05 |
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Is William's (Williams-Beuren) syndrome a genetic condition or is it classed as something else? View Answer |
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2008-10-29 |
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My 30 year old son has q22 deletion syndrome. Is schizophrenia/psychosis the only psychiatric disability associated with this syndrome or is ADHD a possibility? View Answer |
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2008-10-28 |
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My son who is 15 months old was diagnosed with 22q11 MICRODUPLICATION, could it be possible to have 22q13 as well, he shows 70% of the symptoms of the 22q13 as well as 22q11. We have had the FISH test done to determine the 22q11 and that came back positive. Myself as well as my husband both have been tested and come back negative.
Have you seen any cases such as these? What would the outcome of treatment be if someone has both these disorders View Answer |
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2008-09-24 |
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I am a mother of a 20 yr old daughter with "oral facial cardiac De George Syndrome" and plus she has right hemi C.P. I have spent my whole life dealing with this on my own with no help, she has had 69 surgeries and has almost died twice, but we pulled thru it. But now I am facing something with her no doctors told me about, anger and depression, she seems to be up and down so much I cant keep up with her. I cant do this anymore. Please help me. View Answer |
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2008-09-21 |
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my daughter is nearly 5 yrs old . her results showed that she has a small duplication of chromosome 14. now the doctor says it is benign variant and location it is in does'nt look like it has anything to do with my daughter condition. she is developmentally delayed and has muscle low-tone ..but doing great progress. my husband and i are getting tests done so we know if she got it from us. (we are normal.) please help me understand this better.and what i can expect ...since we will be meeting geneticist only after 2 months. View Answer |
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2008-09-08 |
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Our son has many if not most of the features listed on websites as typical for children with Williams Syndrome. A FISH test revealed however no deletions in the tested areas. Various places on the web have varying information about cases where the phenotype matches but the FISH test doesn't confirm a WS diagnosis. What are we to believe? are there other tests that might confirm WS in his case? are there differentials that should be considered in such cases?
thanks for your time. View Answer |
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2008-09-04 |
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Hi,
My son has recently been diagnosed with a microdeletion of chromosome 7 (only recently diagnosed through a new test called microarray CGH?). My husband and I have both been tested and do not carry the deletion so we are told that our future children having this condition is less than 1%. The only way it would reoccur is thorough gonadal mosaicism.
I am pregnant again and do not want to go through invasive prenatal testing.
What are the chances of gonadal mosaicism in us with my sons deletion? Also, if we did have gonadal mosaicism, would all our egg or sperm cells be affected or only some? i.e. would we never have a chance of having a normal child?
thankyou View Answer |
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2008-08-29 |
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My daughter has Williams Syndrome and recently started her period. Her doctor and I agreeded that for her it would be best to put her on Birth control pills so we could predict and be prepared for that time each month.
She is on her second pack and it seems she is backwards. She had a period while on the white pills (3 weeks)and nothing while on the week of brown pills. Now she is on the second pack and again has a period while on the white pills. Also she is having VERY painfull cramps. Her Doctor said it will take at least 3 months for her body to get insync with the pills? My question is, is there any medical research on how the Pill effects girls wih WS ? or any addtional side effects they may have? Am I worrying too soon about nothing or should I push for more answers? Is there anything out there we can read to get us through this, Puberty with WS? HELP! View Answer |
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2008-08-28 |
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My son was diagnosed with williams syndrome. My question is he was not diagnosed with any heart conditions can he develope heart conditions later on? He is four years old and is always constipated does this mean he might have high calcium level? View Answer |
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2008-08-28 |
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Hello! My first son has a bifid uvula (he's been checked for Loey's Dietz with an echo cardiogram (perfect results) and had a visit with a geneticist (who told me he's fine)). My second son was born with Asymmetrical Crying Facies. He's too had an echocardiogram, a renal and back ultrasound (he's fine, too). Also, with this second pregnancy, I had a single artery umbilical cord. My pediatrician says that these things aren't related and that many of us have a minor anomaly if examined close enough. I sort of trust him, but need your extra opinion.
Do you think these issues are all related in that my husband and I have a genetic problem and shouldn't have any more children? Can these anomalies determine the the future health of my children? Also, my husband's fraternal twin died of a brain anuerysm (hence the testing for Loey's Dietz). Should I worry that these anomolies of my children (the bifid uvula and the asymmetric crying facies) may indicated a possibility of an anuerysm? View Answer |
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2008-08-18 |
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My child has had some genitic testing done, the first result was that she had Trisomy X, which we have had to travel out of state to find a specialist. The second being that she --per the report-- a gain in copy number in the subtelomeric region of the short arm of chromosome 17, spanning a minimum of 0.071 mb and a maximum of 0.081 mb, confirmed by FISH analysis. Technical reports show 17p13.2. We are meeting with the genitics clinic at our Children's Hospital in our state but the appointment is forever away could you please tell me something about this and what it could potentially cause. Thanks for your time.
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2008-08-08 |
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We have just been told that our 4.5yr old son has a 17q21.31 microduplication, I have been trying to find out information on this but i am unable to find out much, they did tell us they have only heard of one other case but I am curious in wether this has been heard of in anyone else or if you could give me some more information as we are not sure on what will happen. View Answer |
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2008-07-29 |
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In the north east of England, uk. How many adult patients have direct access to the support they need that I wish to provide in a new service for Di George Syndrome sufferers.
Ample support is provided for Children with the syndrome. But After diagnosis is made, what is done for the prognosis of Adult patients after the Medical side is taken care off.
Some patient whom cant speak through the disabilty , how do they access the correct benefits if work is not avaialble due to the ignorance of disabilty n the work place barring patients with di george syndrome from mainstream life. View Answer |
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2008-06-02 |
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What is the expected life span for a WS adult?
My niece is 40 years old, and seemingly doing well.
She did have valve replacement at age 6.
She is overweight, but is active. Works in a sheltered workshop and is socially active w/ groups and family.
Thank you. View Answer |
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2008-06-01 |
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My daughter is 6 and was given a clinical diagnosis of Williams Syndrome by a geneticist. He stated that regardless of the results of the FISH that he would keep the Williams Syndrome diagnosis.
Her FISH came back normal and she is not missing the Elastin gene. What is the prevalence of geneticist diagnosing Williams Syndrome even though the Elastin is present?
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2008-05-28 |
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My daughter has DiGeorge Syndrome. She is 3 years old and has been battling to survive since birth. My question is concerning her doctors. She has many specialest in diffrent areas and she has her primary care doctor, but she does not see a doctor who only deals with 22q.
Should she be seeing a doctor who only deals with 22q to help tie it all together? View Answer |
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2008-03-05 |
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my daughter was born with tetralogy of fallot.she has had successful surgery for this.she also has sprintzen syndrome can you please explain? also what does missing q22 mean as she also has this?thankyou for your help View Answer |
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2008-02-29 |
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My 6 year old son was diagnosed with 22q11.2 at two weeks old. He had his 1st open heart surgery 3 - days later and during the recovery period suffered a stroke that led to many other complications requiring a trach and vent,colostomey bag, ect..... He has since had bowel reconstruction and has been decantilated. His vocabilary only consist of Ma Ma Ma, Da Da, Andy (his brother) and I Love You. Communicating with him at times can be like playing charades. Lately he has been waking at all hours of the night crying and refuses to go back down after 5am. Any thoughts or advise would be greatly appreciated. View Answer |
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2008-02-08 |
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Can a child with chromosome 22q11 deletion syndrome be given live virus immunizations? Thank you. View Answer |
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2008-01-16 |
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I am 41 yrs old and was diagnosed with partial digeorge syndrome. iam treated with vivaglobin now for the rest of my life. my platelet count has been really low and they said my antibodies are not reproducing anymore. i have had frequent staph infections, bronchtis, pnemonia and sinus infections. can i expect alot of infections the rest of my life? my daughter who is 5 also has this serious condition but they said hers was a mild case. can you help me with this condition or give me some advice. they told me i was luck to have lived has long has i have. thanks View Answer |
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2008-01-16 |
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I took my daughter to see a geneticist he did blood work and a two hour evelavation of her through may test in his office. when the blood work came back the doctor called and said he could not figure out what was wrong with my daughter. she was 2 at the time. i continue to search for answers as i knew something was wrong. finally at the age of 41/2 my daughter was dinosed with digeorge 22q11 by her speech teacher. she suggested we get a fish test done. and we did the test came back possitive. we are now seen by chop in phila. my question would be why did'nt the geneticist figure out what was wrong with my daughter. thank you. View Answer |
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2008-01-16 |
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I am the step-father of a Williams child - She is 12 years old and demonstrates the typical symtoms of Williams - lately she has been lying/misunderstanding situations in her life - at home and at school - is this typical of the syndrome or do we have to look elsewhere. View Answer |
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2007-12-20 |
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I have a son with probable Williams syndrome. I would like to know simply when in fetal development deletion occurs - does that differ? - and is there any way to predict from genetic testing what the level of retardation is probable to be, as it varies so much in this condition? View Answer |
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2007-12-20 |
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My son (4) was recently diagnoised with 17q21.31 microdeletion. 46,XY del(17q21.31) using micro array technology. We were informed that there are only 5 known cases in the US and these other 5 had other genetic deletions and/or duplications making it difficult to do an apples to apples comparison of symtoms and long term expectations.He was born 8/13/2003 (6 lbs, 4 oz) and currently he has the following:-Low set ears-Abnormally sized forehead.-slight ptosis-elongated section between the nose and upper lip-sacral dimple -pear shaped nose-hypotosis, but has very good muscle strength. He struggles with balance and is walking and running on his toes.-Severe speech delay-mild mental delay. -He excels at sign language-He understands verbal speech and directions.We are looking for any information or networking to find other parents with children diagnosed with this deletion.Any assistance or insight would be appreciated. View Answer |
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2007-11-29 |
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Our daughter and son-in-law both have 22Q Deletion. They had a child who lived a remarkable 17 months. The Deletion "doubled up" on her as we were told, by the Geneticist at Children's Hospital in Fresno, CA. She spent half of her life in the hospitlal in Fresno and at Stanford having heart surgeries. It is an amazing story. What I need help with is finding a physician who will treat our daughter who is 33 and son-in-law who is 40. They have many health and mental health problems and it has been dificult to find any health professional who knows (or will put the time into finding out) how to treat their myriad illnessness. We are in the Phoenix, AZ area. Thank you. View Answer |
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2007-11-26 |
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My son recently had a chromosomal micro scan which revealed a "micro deletion on Chromosome 17". 17q21.31
I am at a loss as to what this means or what "syndrome" may be related to it.
He is 4 and has:
A speech delay (not talking, but occasionally blurts out complex words with clarity)
Mild physical delays
Seizures (none since treated with 6 ml of trilepol/day)
Mildly large forehead (normal skull development otherwise)(Hydrocephalus and fused skull)
Slightly low ears (almost unnoticeable)
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2007-11-09 |
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Question about DiGeorge Syndrome inheritance. I am aware that most cases are sporadic but what happens if a male and female whom both have the disorder have a child? More specifically, what happens if both of the parents pass on the mutated or deleted region of chromosome 22? I have been trying to find statistics but have not had very much luck. I am working on a research paper about the human gene TBX1 but my question does not really apply to my assignment so I have been left on my own to find anwers to my "irrelevant" questions.
Any information would be greatly appreciated.
Thanks! View Answer |
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2007-11-04 |
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My 2nd child has the Di George Sydrome and the main defect that affected her most was serious congenital heart problem. She passed away after 2 months. We are considering to have another baby. We would like to know the possibility of my new baby getting the same heart defect and whether the risk is higher for our next child. We have tested our genetics and we are not carrier of this defect, it happened out of spontaneous mutation. Thank you for your advice. View Answer |
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2007-11-02 |
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I am a pediatric physical therapist working with a 3 year old boy who has Chromosome 22q11.2 deletion syndrome. I have noticed that he has an interesting presentation of muscular weakness. He is weaker in his upper extremities, neck and trunk musculature than in his legs. Is this a common presentation for children with this disorder? I have found in my research online that there is a variable presentation and that heart conditions are a common comorbidity, however his presentation does not appear to be related to fatigue.
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2007-10-14 |
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I have a grandson with Deletion 22q11. There appears there is no hx in either families. Mom did drink alcohol at least during first trimester. My father died from central nervous system hemorrage due to Myelodysplastive Syndrome. He worked with very caustic chemicals spanning 25 to 30 years. This was after I and my brother were born. Now one of my children ( not the father of the child with 22 del) and one of my brothers children are presenting with stroke and stroke like symptoms. The doctors think its heredity. There has been no testing as yet. One of these children has been referred to a hemotologist. Both of these cousins are 37. Is there a possibility that the MDS and the 22 Deletion are conected? View Answer |
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2007-09-11 |
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My son in law was told he had Degeorge syndrom by his parents about 5 months ago. He is now seeking further information and how to go about finding out for sure and what it will mean for my daughter (his wife) and future children. He is 21 yrs old very tall with scolliois, has some depression problem along with small learning disabilties , he has a great job and all in all is very healthy. We need to know what to do next and who he should see about this. Any information would be helpful View Answer |
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2007-07-10 |
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I was just told that through a blood test, my daughter has Digeorge syndrome. I have done extensive reading and research via the internet since. My daughter has almost none of the qualities associated with this condition, Except a large bridge on her nose, smaller eyes and a speech delay. She has been extensively tested; Her heart, thryroid, calcium etc. are perfect. She has never, ever been sickly, no cleft palates, etc. and seems like a normal, healthy and happy child. I am so scared when I read all the information about this syndrome. Can she DEVELOP all these physical problems such as autoimmune disorders, spinal problems, kidney problems, heart problems? What is her chance of NOT developing these and living a normal life? What is the life expectancy for Digeorge sufferers? What will the quality of life be? Can the quality of life be normal? How can I get in touch with other parents that are going through this too? Again, my child is very healthy. She is in speech therapy, but is making progress (she's 2.5 yrs. old). She is social, loves other children and I am wondering, since her pediatrician said she is missing such a small tip of her 22nd chromosome, CAN she live a normal life without any health problems (or psychiatric) problems? Is that possible????? View Answer |
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2007-04-29 |
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My 18 year old doctors has, for the last 2 years, been battling psychiatric problems. No one has been able to successfully treat her condition and they remain uncertain as to exactly what she suffers from -- we have heard "psychotic depression, rapid, rapid cycling bipolar, major depression, borderline, etc." Recently I have conducted my own research, since I have always believed that my daughter showed some very slight autistic-like symptoms since infancy. She was adopted from Asia when she was 5 months old. She is polydactyl with an extra toe on one foot, low birth weight, poor sucking abilities for the first few months, a hole in her heart (that healed on its own), an occasionally detected "benign" murmur, her speech was very delayed and required intensive intervention, but she is highly intelligent. Does any of this sound like it would be worth pursuing testing for 22q11DS? View Answer |
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2007-04-27 |
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Recently the neurologist said my child has a possibility Of Williams Sydrome. All of his FISH have returned normal in the past. I have read that the elastin gene is missing in 98 % of people with WS. My question is Is it possible to have Williams Sydrome and be in the 2% who must have the elastin gene? My child has 10 of the characteristics of William's. We are having him ungergo more test soon and we will be sent to a genetecist in Austin , Texas. View Answer |
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2007-04-10 |
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A friend of mine has a son who is scheduled to be tested for 22q11.2 deletion syndrome. For many years, he has suspected that he may not the biological father. Is there any chance that the child's biological parents' medical history (mental illness, coronary artery disease, high blood pressure, etc.) may have an impact on the child's current treatment or future health as an adult? View Answer |
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2007-04-05 |
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My son's psychiatrist said he should get 22q11 genetics testing. It is not on your list of tests. Is it listed as something else? View Answer |
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2007-03-14 |
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my great-grandson is 1 year old and has williams syndrome he has several disorders but one that i'm concerned about is his difficulty in having normal bowel movements my question is can giving him miralax truly be safe or will his bowels depend on this / also is there another alternative View Answer |
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2007-03-08 |
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I have a 23 month old son who has been diagnosed with a microdeletion on the long arm of chromosone 3. He is being followed by a geneticist, but there is still very little information available. Emory's genetics dept. was mentioned to us. Is there someone there who may know more? View Answer |
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2007-02-02 |
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My sister in law has recently been told that she may have the COMT deletion on Chromosome 22. What testing is required to determine if this deletion exists? Can it be done through normal cytogenetic karyotyping or does it require molecular analysis like FISH? Thanks! View Answer |
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2007-01-18 |
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Dear Sir / Madam: My son has 22q11.2 deletion. He was diagnosed when he was 15 years old. He was diagnosed with aquired hypothyroidism when he was about 9 years old. I have been wondering if since digeorge causes absent parathyroid glands and problems with calcium and such why I never see anywhere it mentioned that it can cause a problem with the thyroid gland? Or does digeorge usually not affect the thyroid gland? I just can't figure this one out. I have done tons of reading and searching for information and I have not found one source that states digeorge to cause hypothyroidism. Are the two not related? View Answer |
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2006-12-20 |
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I gave birth to my son December 2005. He was stillborn at 28 weeks. We had an autopsy conducted on him. I have just been notified by the Genetic Center that he could have a condition by the name of DiGeorge Syndrome. Why was this not detected when my husband and I were sent to genetic counceling? I would like to know how this can or will affect my future pregnancies and why was there no signs or symptoms of this prior to his death. We have another child who will be 2 years old December 2006 and why does she not have any signs or symptoms of this disease? (Thank God) Should I have her tested to see if she is a carrier. View Answer |
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2006-11-19 |
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Hi, my son is 6. We just found out 7-06 that he has deletion 22q through a FISH test. My question is this: Is it common for the children with 22q to get a dilated aortic arch? He was diagnosed at birth with having tetralogy of fallot with an absent pulmonary valve. He has had three heart repairs; including, a complete repair and two anuerysms on his right ventricle outflow tract. The dilation is a whole new prognosis and I was wondering if that is due to the 22q or more likely from all the stress on his heart from his condition. View Answer |
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2006-10-30 |
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I am very excited about this new clinic in Atlanta. My son Noah is 20 months old and has just been diagnosed with 22q13 deletion. We are in therapy 5 days a week and also have many doctor visits. The disorders are different so do you think this clinic could be beneficial to our family as well? My husband and I are willing to move if it could help him. I look forward to your response. View Answer |
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2006-10-19 |
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My nephew has Di George and is having problems with fine motor skills. (He has PT three times a week.) Is there any technology that allows him to spell, write, etc. without using his hands and fingers? I am asking because my cousin had cerebral palsy and used something so she could type, among other things. I appreciate your time and hope you can give a great answer. View Answer |
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2006-10-11 |
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my child was born with digeorge. however no one was able to figure out what was wrong with her. we took her to a genetic doctor and he could'nt figure it out the work digeorge was never mentioned. we want to about 30 different doctor in four years. finally her 4th speech teacher figured out that she had digeorge. we had here blood tested by the fish test. why could'nt any of the doctors figure out that she had digeorge. are docotors not that educated on digeorge. if so how do we get the word out. i would have thought that all genetic doctors could figure out a genetic problem. but the one that i want to couldnt. thank you View Answer |
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2006-09-18 |
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I have a child with 22q13.3 - is this the same as 22q11? We came to see a geneticist at Emory in 2000; we were tested and and found out it is 22q13.3 - the tip is missing on that chromoresone he has had a heart defect it was repaired here in Atlanta. View Answer |
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2006-08-30 |
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My daughter was diagnosed with 22q deletion at the age of eight months. I recently became active on some of the online groups of parents with this deletion. I read the story of one mom, who says that she has identical twin boys both with the 22q deletion. She says that she was told by her genetecist that the boys have idential DNA, being that they are identical twins. One son has a severe heart defect, a very low functioning immune system and numerous other probelms associated with the deletion. However, the other son has none of these problems. How is this possible? View Answer |
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2006-08-30 |
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I am 40 year's old, recently delivere a baby female, at 35wks pregnancy, with history of polyhydramnios, acute, starting from 26wks preg. after birth they said she has features of down syndrom (flat face, short nick, low set ears) , later they told me she has no trisomye, there is no translocation, there is heart disease: ASD, VSD, PS which is 90% now. they told me could be CATCH. question is: is fish analysis confirm this, what are the deficulties in learning possible, is genetics confirm down syndrom diagnosis, what i have to do now, my daughter 2 month old. View Answer |
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2006-08-29 |
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hi i have a daughter who is now 21 months old. 22q deletoin ,digoerge syndrome. diagnosed at rainbows babies/child hosp. cleveland. she is age appropriate in every way according to her therapists. her immunology tests came back fine her calcium spontaneously corrected itself back in newborn stage. walks talks acts up just like any other21 mon old. sleeps from 830pm to 7am. she does have truncus arteriosis. one repair at 2 weeks. one cath 1/06 w/ no repair. my question to you is ( knowing every child is different ) from the children researched through all these years ...... WHAT IS THE TYPICAL AFFECT ON OTHER CHILDREN WHO HAVE BEEN IN THE SAME MILD CASE LIKE MY DAUGHTER ?????.. what do you think i should look for in her knowing this general info andwhen ?? i know you can really only guess but i woild like your opinion thank you. View Answer |
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2006-08-13 |
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My daughter tests negative for VCFS when she was given a blood tests at Craniofacial Clinic in Seattle. She has Asperger's Autism, Severe OCD, ADHD, Tourettes, Obstructive Sleep Apnea, VeloPharyngeal Insufficiancy s/p Maxillary Distraction with a Le Fort 1 and External Rigid Fixation . Was born w/ isolated cleft palate. Tapered fingers, overweight, difficulties w/ coordination and social interactions. Can she still have VCFS, or can I stop worrying? View Answer |
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2006-06-29 |
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I have a 10 year old daughter who was born with Jejunal Atresia. She also has Assymetric Crying Facies. She is a highly functioning 10 year old. However, she does have a very difficult time dealing with anxiety. I have recently discovered c22qll deletion. Could she possible have this syndrome? When she was an infant, the doctors did not think these birth defects were related. But is it possible that they are? I also discovered children with ACF have a high rate of cardio problems, should this be a concern as well? How do we go about having her tested? View Answer |
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2006-03-28 |
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My daughter has been diagnosed with Asymmetric Crying Facies. She has a missing muscle (depressor anguli oris muscle) in her face, an absent kidney, and a ventricular septal defect (which has been closed). I'm so confused about what exactly she has. Is ACF the same as Cayler syndrome or cardiofacial syndrome? She has been tested for the 22nd deletion and does not have the deletion. Could it be some other type of chromosomal defect? I'm worried about having another child because I'm not sure if this is something genetic. I would also like to know if this is something that my daughter will carry on. Any help would be appreciated. The geneticists that we've seen in our area have not been very helpful to us. Thank you. View Answer |
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2006-03-08 |
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Do you know what is sugfficence of the deltion of chromesome 15? My husband has this defect as our son, however he's had not anything like my son conditions. My son had coartion of the heart, and urethra big- hyperspadious. . my husband had none of these. What the chance on our second child having any problems? Would you suggest fish test be done at 16 weeks pergant. When the time comes 1-2 yrs. from now? View Answer |
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2006-03-02 |
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Can you die from Williams Syndrome? View Answer |
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2006-02-17 |
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My 11 year old son has demonstrated classic symptoms of Williams Syndrome, including, failure to thrive, low birth weight, poor growth with normal growth for a few years thereafter and now leveled off again, feeding and sleeping problems, developmental delays (walked at 24 months due to poor muscle tone, significant fine motor skill problems), chronic ear infections, sensitivity to loud noises, constant hand flapping when excited, early puberty (age 9), poor coordination and muscle tone, overly friendly but better with adults than peers, etc. He is currently bone age 13.6 but only 4'10\\\", well into puberty (fully developed). He currently has no motor skill or intelligence issues. Nobody has ever suggested this syndrome, and my pediatrician doesn't even seem to have heard of it. He is of above average intelligence, and does not demonstrate the typical Williams facial features except he does have high cheekbones, large ears and almond shaped eyes. Is it possible to have Williams without the typical facial features, and being of above average intelligence? View Answer |
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2006-01-24 |
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My child was recently seen by a genetics specialist and evaluated. They asked for a high resolution chromosome test and a 22q11.2 test. I know that we will have to wait 3 to 4 weeks for the results. My child does exhibit many of the 22q11.2 symptoms including ASD, VSD, slow development of motor skills, slow speech development. He is 18mo and is just recently learning to crawl. He has had recurring ear infections. He had tonsils, adenoids, and tubes put in at 12mo. He also recently had what the doctors are calling a "breath holding" episode which required CPR to be administered. I need to know as a parent if this syndrome is something that I should be concerned for my son's future development. If he has this can we help him lead a normal and safe life?
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2005-12-09 |
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my oldest Son daughter and my husband recently tested positive for 22q 11.2 duplication my other son is waiting on testing, do you see many cases of the duplication? if so do you see any noteable diferances in the mirror syndrome. View Answer |
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2005-10-08 |
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I have a two-month-old cousin who has a microdeletion syndrome. What is this disease? What are the side effects or symptoms associated with this disease? View Answer |
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2005-09-14 |
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I was wondering if you have any pictures or tutorials that would be useful to inform others of DiGeorge syndrome or the symptoms which are caused by microdeletion of 22q11. View Answer |
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2005-09-14 |
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My son, who is almost 7, has VCFS/DiGeorge. We are scheduled to have tonsils & adenoids removed because of snoring, sleep apnea & chronic ear infections. However, the support group to which I belong has warned against removing the adenoids. I'm assuming because of immune system or palate issues. My son has no obvious palate defects & does have a thymus, even if it is small. What is the danger of removing the adenoids in a DiGeorge child? Thanks. View Answer |
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2005-09-14 |
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We just saw an ear, nose, and throat specialist because our daughter has snored forever and is a mouth breather. During the investigation he was concerned about her facial structure and she has a high pallette (roof of her mouth). Her tonsils almost cover her airway and her adenoids are 90 percent blocking her airway. He said he suggests removing them but wants genetic testing done to rule out some genetic disorder "Vellum something"? We were so shocked that we can't remember anything else he told us - do you know what this would be? He told us some characteristics about facial abnormalities. View Answer |
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2005-09-14 |
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We recently saw a pediatrician specialing in delayed development for our 4 year old daughter. She sent blood off for genetic testing and she suspects a syndrome related to chromosome 22Q (deletion?) We should be seeing a geneticist in the next month, but until then could you give me some specific information on detailed symptoms of the syndrome and prognosis. We discussed this somewhat, but I would like to know more. The doctor said she suspected it right off from looking at her face. What about our daughter's cranial facial structure would have tipped her off? I am an RN, and was aware certain facial features were characteristic of different genetic disorders, but our daughter looks so normal to us. She is adopted, but we have pictures of her birthparents and I've never seen any noticable unusual features. Mostly however, I'd like to read up on this disorder as soon as possible. View Answer |
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2005-09-14 |
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We were just given this information from a FISH test. Our doctor said she would have to do more research to see what it is. I would like to know if this has a name, how rare it is, what can we expect? Our son is 3 years old and, from his presentation, we thought he had Angelman's Syndrome. Obviously, he doesn't. Can you help? His karyotype is:46,XY,der(22)t(10;22)(p15.1;q13.33).ish der(22)t(10;22)(p15.1;q13.33)ARSA-,ACR-,HS10PT006+). View Answer |
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2005-09-14 |
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What causes the DiGeorge syndrome? View Answer |
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2005-09-14 |
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What is a Microdeletion syndrome? View Answer |
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2005-09-14 |
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What is the DiGeorge syndrome? View Answer |
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2005-09-14 |
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