22q and You Center

What is the Chromosome 22q11.2 Deletion?

The chromosome 22q11.2 deletion is a chromosomal difference, one that may or may not "run in the family" (meaning it's hereditary). It's present in approximately one out of every 9,000 live births, and in 5 to 8 percent of children born with cleft palate. It's almost as common as Down syndrome, a more widely recognized chromosomal disorder.

The 22q11.2 deletion is the underlying cause of the medical problems associated with DiGeorge syndrome, velocardiofacial syndrome and conotruncal anomaly face syndrome, as well as some of the problems associated with Opitz G/BBB and Cayler cardiofacial syndromes.

Reviewed by: Donna M. McDonald-McGinn, MS, CGC
Date: May 2004

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