Chromosome 22q11.2 deletion syndrome

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Chromosome 22q11.2 deletion syndrome (abbrev. 22q11.2DS) 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 afflicts about one in 5000 newborn children and can be diagnosed with a genetic test. 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. For instance, more than half of the 22q11.2DS patients are affected by congenital heart disease (McDonald-McGinn et al., 1999), and 22q11.2DS is also frequently associated with polymicrogyria (Robin et al., 2006), possibly due to perinatal cardiovascular effects (Barkovich et al., 1995).