title: [22q11 deletion syndrome].
abstract: 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.
authors.affiliation: Børneafdelingen, Arhus Universitetshospital, Skejby, DK-8200 Arhus N, Denmark. Charlotte.Olesen@dadlnet.dk
authors.forename: Charlotte
authors.initials: C
authors.lastname: Olesen
authors.forename: Peter
authors.initials: P
authors.lastname: Agergaard
authors.forename: Maria
authors.initials: M
authors.lastname: Boers
authors.forename: Stense
authors.initials: S
authors.lastname: Farholt
authors.forename: Carsten J
authors.initials: CJ
authors.lastname: Heilman
authors.forename: Lut
authors.initials: L
authors.lastname: Hvidkjaer
authors.forename: Kurt
authors.initials: K
authors.lastname: Kristensen
authors.forename: Marlene B
authors.initials: MB
authors.lastname: Lauritsen
authors.forename: Jytte
authors.initials: J
authors.lastname: Lunding
authors.forename: Bent W
authors.initials: BW
authors.lastname: Nielsen
authors.forename: Flemming
authors.initials: F
authors.lastname: Skovby
authors.forename: Nana
authors.initials: N
authors.lastname: Thrane
authors.forename: Ida
authors.initials: I
authors.lastname: Vogel
authors.forename: John R
authors.initials: JR
authors.lastname: Østergaard
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D004062:DiGeorge Syndrome / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D010641:Phenotype; D017410:Practice Guidelines as Topic; D009626:Terminology as Topic