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22q11.2 deletion syndrome

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

Epidemiology

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

Clinical features

Pathology

Genetics

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.

Associations

Etymology

It was first described in 1968 by Angelo DiGeorge 

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