Content area

|
|

22q11-deletionssyndrom

Forfatter(e)
Overlæge Charlotte Olesen, læge Peter Agergaard, audiologopæd Maria Boers, overlæge Stense Farholt, professor Carsten J. Heilman, specialtandlæge Lut Hvidkjær, overlæge Kurt Kristensen, 1. reservelæge Marlene B. Lauritsen, psykolog Jytte Lunding, overlæge Bent W. Nielsen, professor Flemming Skovby, overlæge Nana Thrane, læge Ida Vogel & professor John R. Østergaard Århus Universitetshospital, Skejby, Børneafdelingen
Reference: 
Ugeskr Læger 2009;171(13):1038-1046
Blad nummer: 
Sidetal: 
1038-1046
Summary 22q11 deletion syndrome Ugeskr Læger 2010;172(13):1038-1046 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.
Du skal være logget ind for at læse denne artikel
Log ind

Right side

af Marianne Carisius Kastrup | 06/12
2 kommentarer
af Mats Lindberg | 06/12
1 Kommentar
af Jens Ole Mathiesen | 06/12
2 kommentarer
af Jørn Bøgh | 06/12
2 kommentarer
af Anna Inger Roe Rasmussen | 02/12
18 kommentarer
af Troels Krogh Nielsen | 30/11
7 kommentarer
af Flemming Juul Hansen | 29/11
1 Kommentar