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Genetics (Expert Forum)
De Georges Syndrome
Answered by
Lisa Kessler, MS, CGC - Hereditary Disorders, hemochromatosis, Patient Outreach
DNA Direct
This forum is for questions and support regarding Genetics.
This forum is for questions and support regarding a person’s predisposition to a variety of medical conditions such as Alzheimer’s Disease, Blood-clotting Disorders, Breast Cancer, Cystic Fibrosis, Diabetes, Marfan Syndrome, Ehlers-Danlos Syndrome, etc.
De Georges Syndrome
by halfpint51, Mar 27, 2008 04:05PM
Hi...I was hoping someone could help. My niece who is 9 months old, was just diagnosed with De Georges Syndrome. There doesnt seem too be a whole lot of info on it. Since birth, my niece has had a few different problems, including a hole in her heart, problems with her calcium levels. My sister was induced 6 weeks early because of Cardiac problems that my sister was having, including high calcium. I was wondering why doctors didnt catch this earlier. They have been testing and testing since birth, and finally a genetic doctor told my sister De Georges was a possibility, but by the looks of the baby, he didnt feel that she would be positive. Well , sure enough, the baby tested positive, and now has to go for more testing. My sister is very concerned, because the baby will not put her legs down when she is picked up, and keeps them crossed. She has no desire to stand at all. She also can not sit up unassisted, and she is seeing other signs that show she may have learning disabilities. My sister really wants to do everyhting she can to intervene early to help the baby out as much as possible. Again, there just doesnt seem to be much info on De Georges, and we were hoping someone could tellus thebest way to approach this situation, and hopefully some helpful ideas on people to seek out. Also, any advice on why the baby has this chromosonal disease would also help.Thank you in advance for any help.
Doctor's Answer
by Lisa Kessler, MS, CGC, Apr 03, 2008 02:32PM
, Apr 03, 2008 02:32PM
Thank you for sharing your story about your niece. I hope the following information is helpful for you and your family.
DiGeorge syndrome is also known as 22q11.2 deletion syndrome. Children with 22q11.2 deletion syndrome have a variety of medical problems affecting many systems of the body including the heart, which you mentioned for your niece. Other symptoms including feeding difficulties, digestive problems, trouble with the immune system, cleft lip/palate, and delayed development such as a delay in motor skills.
The chromosomal deletion (missing piece of chromosome) that causes DiGeorge syndrome may or may not run in families. Your niece’s parents may want to discuss the option of being tested for this condition themselves. This would provide information about risks for other family members and for future children.
There is a center at the Children’s Hospital of Philadelphia called “22q and you”. The center specializes in helping individuals and families with 22q to learn more about the diagnosis and offer opportunities to participate in research. Families have a chance to meet with 15 different specialists who focus on the 22q deletion syndromes. It may be helpful for your sister to bring your niece to this center for a thorough evaluation. The website for the “22q and you” center also lists the names and contact numbers for support groups around the country. This may also help your sister to learn more about where to go for information about this syndrome. I wish you and your family the best.
DiGeorge syndrome is also known as 22q11.2 deletion syndrome. Children with 22q11.2 deletion syndrome have a variety of medical problems affecting many systems of the body including the heart, which you mentioned for your niece. Other symptoms including feeding difficulties, digestive problems, trouble with the immune system, cleft lip/palate, and delayed development such as a delay in motor skills.
The chromosomal deletion (missing piece of chromosome) that causes DiGeorge syndrome may or may not run in families. Your niece’s parents may want to discuss the option of being tested for this condition themselves. This would provide information about risks for other family members and for future children.
There is a center at the Children’s Hospital of Philadelphia called “22q and you”. The center specializes in helping individuals and families with 22q to learn more about the diagnosis and offer opportunities to participate in research. Families have a chance to meet with 15 different specialists who focus on the 22q deletion syndromes. It may be helpful for your sister to bring your niece to this center for a thorough evaluation. The website for the “22q and you” center also lists the names and contact numbers for support groups around the country. This may also help your sister to learn more about where to go for information about this syndrome. I wish you and your family the best.
