Sumary: A study of 264 subjects; 102 adults (>17 years) with 22q11.2DS (44 male (M), 58 female (F); mean (SD) age 33.6 (10.9) years) and their 162 unaffected siblings (77 M, 85 F; mean age 36.1 (12.2) years). The researchers concluded that individuals with 22q11.2DS who survive childhood have diminished life expectancy and increased risk of sudden death not attributable to any single factor. Some sudden and/or premature deaths observed in the general population may represent undiagnosed 22q11.2DS. Increased recognition of the syndrome by family doctors, specialists and coroners will be essential to facilitate the tissue studies needed to determine underlying mechanisms.
Bibliographic details: Bassett AS, Chow EW, Husted J, Hodgkinson KA, Oechslin E, Harris L ... et al. Premature death in adults with 22q11.2 deletion syndrome. J Med Genet 2009 May;46(5):324-30. Epub 2009 Feb 25
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