22q11-deletionssyndrom

Charlotte Olesen; Peter Juul Agergaard; Maria Gregers Christiansen Boers; Stense Farholt; Carsten J Heilman; Lut Hvidkjaer; Kurt Kristensen; Marlene B Lauritsen; Jytte Lunding; Bent W Nielsen; Flemming Skovby; Nana Thrane; Ida Vogel; John R Østergaard

22q11-deletionssyndrom

Translated title of the contribution: [22q11 deletion syndrome]

Charlotte Olesen, Peter Juul Agergaard, Maria Gregers Christiansen Boers, Stense Farholt, Carsten J Heilman, Lut Hvidkjaer, Kurt Kristensen, Marlene B Lauritsen, Jytte Lunding, Bent W Nielsen, Flemming Skovby, Nana Thrane, Ida Vogel, John R Østergaard

Research output: Contribution to journal › Journal article › Research › peer-review

2 Citations (Scopus)

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.

Translated title of the contribution	[22q11 deletion syndrome]
Original language	Danish
Journal	Ugeskrift for Laeger
Volume	172
Issue number	13
Pages (from-to)	1038-46
Number of pages	9
ISSN	0041-5782
Publication status	Published - 29 Mar 2010
Externally published	Yes

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title = "22q11-deletionssyndrom",

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.",

author = "Charlotte Olesen and Agergaard, {Peter Juul} and Boers, {Maria Gregers Christiansen} and Stense Farholt and Heilman, {Carsten J} and Lut Hvidkjaer and Kurt Kristensen and Lauritsen, {Marlene B} and Jytte Lunding and Nielsen, {Bent W} and Flemming Skovby and Nana Thrane and Ida Vogel and {\O}stergaard, {John R}",

year = "2010",

month = mar,

day = "29",

language = "Dansk",

volume = "172",

pages = "1038--46",

journal = "Ugeskrift for Laeger",

issn = "0041-5782",

publisher = "Almindelige Danske Laegeforening",

number = "13",

}

TY - JOUR

T1 - 22q11-deletionssyndrom

AU - Olesen, Charlotte

AU - Agergaard, Peter Juul

AU - Boers, Maria Gregers Christiansen

AU - Farholt, Stense

AU - Heilman, Carsten J

AU - Hvidkjaer, Lut

AU - Kristensen, Kurt

AU - Lauritsen, Marlene B

AU - Lunding, Jytte

AU - Nielsen, Bent W

AU - Skovby, Flemming

AU - Thrane, Nana

AU - Vogel, Ida

AU - Østergaard, John R

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

C2 - 20350479

SN - 0041-5782

VL - 172

SP - 1038

EP - 1046

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

IS - 13

ER -

22q11-deletionssyndrom

Abstract

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