What is chromosome 22q11.2 deletion?

Also known as: chromosome 22q11.2 deletion syndrome, 22q11.2 deletion syndrome, DiGeorge syndrome, Distal Chromosome 22q11.2 Deletion Syndrome.

Chromosome 22q11.2 deletion is a disorder that occurs when a small part of chromosome 22 is missing at birth. It leads to a wide variety of complications in children born with the disorder.

This condition goes by many names including DiGeorge syndrome, Velocardiofacial syndrome, and Shprinzen syndrome. The different names arose initially because different people used their own clinical descriptions for what was later found to represent one condition that can include a large spectrum of clinical findings. Some individuals will have many of the findings and others few. Therefore, the condition is now called “22q11.2 Deletion syndrome.” Approximately 1 in 4000 people has Deletion 22q11.2 syndrome.

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Reviewed by: Parul B Jayakar, MD

This page was last updated on: 1/29/2019 3:21:13 PM