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22q11-deletionssyndrom

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  • Charlotte Olesen
  • Peter Agergaard
  • Maria Boers
  • Stense Farholt
  • Carsten Johan Heilmann
  • Lut Hvidkjaer
  • Kurt Kristensen
  • Marlene Briciet Lauritsen
  • Jytte Lunding
  • Bent Windelborg Nielsen
  • Skovby, Flemming
  • Nana Thrane
  • Ida Vogel
  • John Rosendahl Østergaard
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.
OriginalsprogDansk
TidsskriftUgeskrift for Laeger
Vol/bind172
Udgave nummer13
Sider (fra-til)1038-46
Antal sider9
ISSN0041-5782
StatusUdgivet - 29 mar. 2010

ID: 34145554