22q11.2 deletion syndrome is thought to be almost as common as Down syndrome. So why haven’t you heard of it?  Until recently, this syndrome had many different names since the underlying cause was unknown. Now we know it results from a missing section of chromosome 22. A key to early diagnosis of 22q is prenatal genetic screening. Natera’s Panorama prenatal screen can provide parents with their first steps towards the early detection of genetic conditions so they can prepare.

deletion syndrome is caused by missing genetic information on chromosome It's a common genetic condition almost as common as Down syndrome.

Have you ever heard of DiGeorge syndrome? How about Velocardiofacial syndrome? 22q deletion syndrome? Maybe your answer is yes, but it would not be surprising for the answer to these questions to be no.  That is part of the problem.  One in every 2,000 to 4,000 children born have 22q11.2 deletio

Have you ever heard of DiGeorge syndrome? How about Velocardiofacial syndrome? Maybe your answer is yes, but it would not be surprising for the answer to these questions to b…

DiGeorge syndrome - deletion of 22.  Dysmorphic facial features, Tetralogy of Fallot, recurrent infections with Candida, hypoplasia of the thymus, hypocalcemia due to dysfunctional hypoparathyroid glands.

DiGeorge syndrome - deletion of Dysmorphic facial features, Tetralogy of Fallot, recurrent infections with Candida, hypoplasia of the thymus, hypocalcemia due to dysfunctional hypoparathyroid glands. (This is the chromosome deletion Caelyn has)

digeorge syndrome: 22q deletion

Children born with deletion or DiGeorge Syndrome can have a wide range of features, such as heart defects, growth delay, or cognitive and speech delays.

It’s been a difficult 12 days.  It was 10 days ago that we received the news that Rainbow has DiGeorge Syndrome.  We were completely stunned.  We had never heard of DiGeorge Syndrome…

It’s been a difficult 12 days. It was 10 days ago that we received the news that Rainbow has DiGeorge Syndrome. We were completely stunned. We had never heard of DiGeorge Syndrome…

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