What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia

doi:10.1002/ajmg.a.40637

Article

What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia

1 Oct 2018

Abstract excerpt

22q11.2 deletion syndrome (22q11.2DS) is a disorder caused by recurrent, chromosome-specific, low copy repeat (LCR)-mediated copy-number losses of chromosome 22q11. The Children's Hospital of Philadelphia has been involved in the clinical care of individuals with what is now known as 22q11.2DS since our initial report of the association with DiGeorge syndrome in 1982. We reviewed the medical records on our...

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