[CIS-PAGID] Chr 22q11.2 duplication

[Ochs, Hans]

Hi, Joe
Great case to find out!
One can expect some small losses around the duplication, it can result in out of frame, and it certainly gives an extra gene dose of some relevant genes.
Have fun
hans

Hans D. Ochs, MD, Dr. med
Professor of Pediatrics | Jeffrey Modell Chair of Pediatric Immunology Research
Center for Immunity and Immunotherapies
Seattle Children's Research Institute | University of Washington

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From: pagid-bounces at list.clinimmsoc.org [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Church, Joseph
Sent: Tuesday, February 14, 2012 3:09 PM
To: pagid at list.clinimmsoc.org
Subject: [CIS-PAGID] Chr 22q11.2 duplication

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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