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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 2000 to 4000 live pregnancies ref.

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.

Associations

Etymology

It was first described in 1968 by Angelo DiGeorge 

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