22q11.2 deletion syndrome

The 22q11.2 deletion syndrome (also known as the DiGeorge syndrome or velocardiofacial syndrome) is a syndrome where a small portion of the chromosome 22 is lost and results in a variable but recognisable pattern of physical and behavioral features.


The estimated incidence is at ~ 1 in 4000 live pregnancies 4.

Clinical features



There is a near universal association with a deletion within chromosome 22q11.2. The majority of cases have de novo mutations. More recently, 22q11 deletions have also been detected in individuals with some types of conotruncal cardiac defects as well as conotruncal anomaly face syndrome 5.


History and etymology

It was first described in 1968 by Angelo DiGeorge.

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