[CIS-PAGID] Chr 22q11.2 duplication

[Kate Sullivan]

We have found a number here and while they have many featured in common with the deletions, they have not (so far) had an immune deficiency.

Kate
Kate Sullivan, MD PhD
Professor of Pediatrics
ARC 1216 Immunology CHOP
3615 Civic Center Blvd.
Philadelphia, PA 19104
(p) 215-590-1697
(f) 267-426-0363


On Feb 14, 2012, at 6:09 PM, Church, Joseph wrote:


> Colleagues:

>  

> I have been asked to see a 1yo with congenital anomalies, chronic lung disease, PDA ligation and coarc repair, and acute pneumonia.  The patient phenotypically looks like a DiGeorge patient.  She has chr 22q11.2 duplication.

>  

> Do patients with 22q.11.2 duplication have immunodeficiency?

>  

> Thank you.

>  

> Joe Church

> Children's Hospital Los Angeles

>  

>  

> 

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