22q11 deletion syndrome
Olesen, C.; Agergaard, P.; Boers, M.; Farholt, S.; Heilman, C.J.; Hvidkjaer, L.; Kristensen, K.; Lauritsen, M.B.; Lunding, J.; Nielsen, B.W.; Skovby, F.; Thrane, N.; Vogel, I.; Østergaard, J.R.
Ugeskrift for Laeger 172(13): 1038-1046
2010
ISSN/ISBN: 1603-6824 PMID: 20350479 Document Number: 644739
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 various manifestations of the syndrome. Finally, we suggest strategies for diagnosing, evaluating and organizing the treatment for Danish patients with this syndrome.