Epidemiology

DiGeorge syndrome (22q11.2 deletion syndrome, or 22q11.2DS) is the most common microdeletion syndrome with an estimated minimum prevalence of 1.02 to 4.7 per 10,000 live births.[1][11][12]​​​​​​ Males and females are equally affected, and there is no demonstrated ethnic predisposition, although it may influence the specific manifestations of the disorder.[13][14]

​​Most 22q11.2 deletions presenting with cardiac disease or hypocalcemia are detected in infancy. Patients who do not have such overt manifestations may be easily overlooked, and the syndrome may be diagnosed later because of learning disabilities, palatal insufficiency, or psychiatric disease. The disorder was previously thought to be rare in adults, but with improved survival after cardiac surgery and more widespread use of fluorescence in situ hybridization testing for the deletion, more adults are being identified.[15]​ Complete DiGeorge syndrome requiring immune reconstitution through thymic transplant or adoptive transfer of mature T cells is rare, as is the atypical form of the syndrome (complete syndrome with proliferating autoreactive oligoclonal T-cell populations).[6][16]

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