Chromosome 22q11.2 deletion syndrome

Chromosome 22q11.2 deletion syndrome (also known as velocardiofacial syndrome or DiGeorge syndrome) is a clinical condition due to microdeletions in the 11.2 region on human chromosome 22. It was first diagnosed in 1968 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.