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22q11-deletionssyndrom

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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.

I: Ugeskrift for Laeger, Bind 172, Nr. 13, 29.03.2010, s. 1038-46.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

Harvard

Olesen, C, Agergaard, P, Boers, M, Farholt, S, Heilmann, CJ, Hvidkjaer, L, Kristensen, K, Lauritsen, MB, Lunding, J, Nielsen, BW, Skovby, F, Thrane, N, Vogel, I & Østergaard, JR 2010, '22q11-deletionssyndrom', Ugeskrift for Laeger, bind 172, nr. 13, s. 1038-46.

APA

Olesen, C., Agergaard, P., Boers, M., Farholt, S., Heilmann, C. J., Hvidkjaer, L., ... Østergaard, J. R. (2010). 22q11-deletionssyndrom. Ugeskrift for Laeger, 172(13), 1038-46.

Vancouver

Olesen C, Agergaard P, Boers M, Farholt S, Heilmann CJ, Hvidkjaer L o.a. 22q11-deletionssyndrom. Ugeskrift for Laeger. 2010 mar 29;172(13):1038-46.

Author

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. / 22q11-deletionssyndrom. I: Ugeskrift for Laeger. 2010 ; Bind 172, Nr. 13. s. 1038-46.

Bibtex

@article{fc36a0b001644bab8e8fbccb445302a3,
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 Peter Agergaard and Maria Boers and Stense Farholt and Heilmann, {Carsten Johan} and Lut Hvidkjaer and Kurt Kristensen and Lauritsen, {Marlene Briciet} and Jytte Lunding and Nielsen, {Bent Windelborg} and Flemming Skovby and Nana Thrane and Ida Vogel and {\O}stergaard, {John Rosendahl}",
year = "2010",
month = "3",
day = "29",
language = "Dansk",
volume = "172",
pages = "1038--46",
journal = "Ugeskrift for Laeger",
issn = "0041-5782",
publisher = "Almindelige Danske Laegeforening",
number = "13",

}

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