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22q11.2 deletion syndrome

Last revised by Dr Jeremy Jones on 26 Aug 2021

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 a recognisable pattern of physical and behavioral features.

The estimated incidence is at ~ 1 in 4000-6000 live pregnancies 4,10.

CATCH 22 is the mnemonic to remember the chromosome and all the abnormalities.

There is a near-universal association with a deletion within chromosome 22q11.2. The majority of cases have de novo mutations. 22q11 deletions are associated with some types of conotruncal cardiac defects as well as conotruncal anomaly face syndrome 5.

Temporal bone malformations are common: 7:

Brain and cerebrovascular malformations are common 6,8:

Cardovascular, particularly conotruncal, defects are usually the first imaging abnormality noted in these patients 10:

First described in 1968 by Angelo DiGeorge (1921-2009), an American physician.

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