[CIS-PAGID] Chr 22q11.2 duplication

[Church, Joseph]

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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