Peter Agergaard

Can clinical assessment detect 22q11.2 deletions in patients with cardiac malformations? A review

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Can clinical assessment detect 22q11.2 deletions in patients with cardiac malformations? A review. / Agergaard, Peter; Hebert, Anders; Sørensen, Karina M; Østergaard, John R; Olesen, Charlotte.

In: European Journal of Medical Genetics, Vol. 54, No. 1, 2011, p. 3-8.

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

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Agergaard, P, Hebert, A, Sørensen, KM, Østergaard, JR & Olesen, C 2011, 'Can clinical assessment detect 22q11.2 deletions in patients with cardiac malformations? A review', European Journal of Medical Genetics, vol. 54, no. 1, pp. 3-8. https://doi.org/10.1016/j.ejmg.2010.09.016

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Author

Agergaard, Peter ; Hebert, Anders ; Sørensen, Karina M ; Østergaard, John R ; Olesen, Charlotte. / Can clinical assessment detect 22q11.2 deletions in patients with cardiac malformations? A review. In: European Journal of Medical Genetics. 2011 ; Vol. 54, No. 1. pp. 3-8.

Bibtex

@article{f051c2bcfd694dbd860cffd2e37849ab,
title = "Can clinical assessment detect 22q11.2 deletions in patients with cardiac malformations?: A review",
abstract = "No consensus exists regarding the ability to detect the 22q11 deletion syndrome based on clinical assessment. Traditionally, diagnosis depends on clinical referral. Thus, individuals with typical manifestations are easily identified, but when manifestations are atypical or subclinical, diagnosis may be delayed or even missed. The aim of the present literature review was to evaluate the validity of clinical assessment as a method of predicting 22q11.2 deletions in individuals with congenital cardiac malformations.",
keywords = "Chromosome Deletion, Chromosomes, Human, Pair 22, Genetic Testing, Heart, Heart Defects, Congenital, Humans, Myocardium, Sensitivity and Specificity",
author = "Peter Agergaard and Anders Hebert and S{\o}rensen, {Karina M} and {\O}stergaard, {John R} and Charlotte Olesen",
note = "Copyright {\textcopyright} 2010 Elsevier Masson SAS. All rights reserved.",
year = "2011",
doi = "10.1016/j.ejmg.2010.09.016",
language = "English",
volume = "54",
pages = "3--8",
journal = "European Journal of Medical Genetics",
issn = "1769-7212",
publisher = "Elsevier Masson",
number = "1",

}

RIS

TY - JOUR

T1 - Can clinical assessment detect 22q11.2 deletions in patients with cardiac malformations?

T2 - A review

AU - Agergaard, Peter

AU - Hebert, Anders

AU - Sørensen, Karina M

AU - Østergaard, John R

AU - Olesen, Charlotte

N1 - Copyright © 2010 Elsevier Masson SAS. All rights reserved.

PY - 2011

Y1 - 2011

N2 - No consensus exists regarding the ability to detect the 22q11 deletion syndrome based on clinical assessment. Traditionally, diagnosis depends on clinical referral. Thus, individuals with typical manifestations are easily identified, but when manifestations are atypical or subclinical, diagnosis may be delayed or even missed. The aim of the present literature review was to evaluate the validity of clinical assessment as a method of predicting 22q11.2 deletions in individuals with congenital cardiac malformations.

AB - No consensus exists regarding the ability to detect the 22q11 deletion syndrome based on clinical assessment. Traditionally, diagnosis depends on clinical referral. Thus, individuals with typical manifestations are easily identified, but when manifestations are atypical or subclinical, diagnosis may be delayed or even missed. The aim of the present literature review was to evaluate the validity of clinical assessment as a method of predicting 22q11.2 deletions in individuals with congenital cardiac malformations.

KW - Chromosome Deletion

KW - Chromosomes, Human, Pair 22

KW - Genetic Testing

KW - Heart

KW - Heart Defects, Congenital

KW - Humans

KW - Myocardium

KW - Sensitivity and Specificity

U2 - 10.1016/j.ejmg.2010.09.016

DO - 10.1016/j.ejmg.2010.09.016

M3 - Journal article

C2 - 20965293

VL - 54

SP - 3

EP - 8

JO - European Journal of Medical Genetics

JF - European Journal of Medical Genetics

SN - 1769-7212

IS - 1

ER -