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]​​​​ Evidence from the Western Götaland region of Sweden shows the mean annual incidence is approximately 14 per 100,000 live births (approximately 23 per 100,000 live births in Gothenburg, where a multidisciplinary specialist team is based), and the prevalence is approximately 13 per 100,000 children below 16 years of age (approximately 23 per 100,000 in Gothenburg).[13] Evidence from North and South America shows that males and females are equally affected, and there is no demonstrated ethnic predisposition, although it may influence the specific manifestations of the disorder.[14][15]

Most 22q11.2 deletions presenting with cardiac disease or hypocalcaemia 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 hybridisation testing for the deletion, more adults are being identified.[16]​ 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][17]

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