Chromosome 22q11.2 deletion syndrome

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Chromosome 22q11.2 deletion syndrome is a clinical condition due to microdeletions in the 11.2 region on human chromosome 22. The term is also often used interchangeably with velocardiofacial syndrome or DiGeorge syndrome, although the overlap between the conditions is not complete (Kobrynski and Sullivan, 2007). It was first diagnosed in 1968 by Angelo DiGeorge as an immunological syndrome but has since been found to be associated with a wide phenotypic spectrum which also includes cardiovascular, craniofacial and brain morphometric abnormalities as well as cognitive impairments. It affects about one in 5000 newborn children and can be diagnosed with a genetic test.