22q11-deletionssyndrom
Research output: Contribution to journal › Journal article › Research › peer-review
Standard
22q11-deletionssyndrom. / Olesen, Charlotte; Agergaard, Peter; Boers, Maria; Farholt, Stense; Heilmann, Carsten Johan; Hvidkjaer, Lut; Kristensen, Kurt; Lauritsen, Marlene Briciet; Lunding, Jytte; Nielsen, Bent Windelborg; Skovby, Flemming; Thrane, Nana; Vogel, Ida; Østergaard, John Rosendahl.
In: Ugeskrift for Laeger, Vol. 172, No. 13, 29.03.2010, p. 1038-46.Research output: Contribution to journal › Journal article › Research › peer-review
Harvard
APA
Vancouver
Author
Bibtex
}
RIS
TY - JOUR
T1 - 22q11-deletionssyndrom
AU - Olesen, Charlotte
AU - Agergaard, Peter
AU - Boers, Maria
AU - Farholt, Stense
AU - Heilmann, Carsten Johan
AU - Hvidkjaer, Lut
AU - Kristensen, Kurt
AU - Lauritsen, Marlene Briciet
AU - Lunding, Jytte
AU - Nielsen, Bent Windelborg
AU - Skovby, Flemming
AU - Thrane, Nana
AU - Vogel, Ida
AU - Østergaard, John Rosendahl
PY - 2010/3/29
Y1 - 2010/3/29
N2 - 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.
AB - 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.
M3 - Tidsskriftartikel
VL - 172
SP - 1038
EP - 1046
JO - Ugeskrift for Laeger
JF - Ugeskrift for Laeger
SN - 0041-5782
IS - 13
ER -
ID: 34145554