Article
[22q11 deletion syndrome].
Ugeskrift for laeger - 29 Mar 2010
Olesen Charlotte, Agergaard Peter, Boers Maria, Farholt Stense, Heilman Carsten J, Hvidkjaer Lut, Kristensen Kurt, Lauritsen Marlene B, Lunding Jytte, Nielsen Bent W, Skovby Flemming, Thrane Nana, Vogel Ida, Østergaard John R
Abstract excerpt
22q11 deletion syndrome (formerly named CATCH22, DiGeorge, Velo-Cardio-Facial, Caylor, Kinouchi and Shprintzen syndrome) occurs in approximately 1/2000 to 4000 children. The genetic lesion is remarkably uniform, occurring mainly as 3 or 1.5 MB deletions in the 22q11.2 region. However, the clinical manifestations are variable and manifestation in several organ systems often occur. In this review we describe the...
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