Williams syndrome: new insights into genetic etiology, pathogenesis and clinical aspects

J M van Hagen, L C Govaerts, I F de Coo, J J Gille, A W Nieuwint, K Madan

Research output: Contribution to journalReview articleAcademicpeer-review

Abstract

Williams syndrome (WS) is a developmental disorder characterized by distinct facial features, congenital heart disease, mental retardation and a gregarious personality. The majority of people with this disorder have a submicroscopic deletion of genes in chromosome band 7q11.23. This deletion can be detected using fluorescence in situ hybridization (FISH). Although the condition is usually sporadic a few familial cases with autosomal dominant inheritance have been described. A clinical scoring system has been developed by Selicorni with which a diagnosis of 'Williams syndrome' can be made; in all patients in whom the diagnosis was made in this way FISH results were positive.

Translated title of the contributionWilliams syndrome: new insights into genetic etiology, pathogenesis and clinical aspects
Original languageDutch
Pages (from-to)396-400
Number of pages5
JournalNederlands Tijdschrift voor Geneeskunde
Volume145
Issue number9
Publication statusPublished - 3 Mar 2001

Cite this

van Hagen, J M ; Govaerts, L C ; de Coo, I F ; Gille, J J ; Nieuwint, A W ; Madan, K. / Williams-syndroom : nieuwe inzichten in genetische etiologie, pathogenese en kliniek. In: Nederlands Tijdschrift voor Geneeskunde. 2001 ; Vol. 145, No. 9. pp. 396-400.
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abstract = "Williams syndrome (WS) is a developmental disorder characterized by distinct facial features, congenital heart disease, mental retardation and a gregarious personality. The majority of people with this disorder have a submicroscopic deletion of genes in chromosome band 7q11.23. This deletion can be detected using fluorescence in situ hybridization (FISH). Although the condition is usually sporadic a few familial cases with autosomal dominant inheritance have been described. A clinical scoring system has been developed by Selicorni with which a diagnosis of 'Williams syndrome' can be made; in all patients in whom the diagnosis was made in this way FISH results were positive.",
keywords = "Child, Chromosomes, Human, Pair 7/genetics, Diagnosis, Differential, Gene Deletion, Genetic Counseling, Genetic Predisposition to Disease, Humans, In Situ Hybridization, Fluorescence, Incidence, Mosaicism, Netherlands/epidemiology, Phenotype, Williams Syndrome/diagnosis",
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Williams-syndroom : nieuwe inzichten in genetische etiologie, pathogenese en kliniek. / van Hagen, J M; Govaerts, L C; de Coo, I F; Gille, J J; Nieuwint, A W; Madan, K.

In: Nederlands Tijdschrift voor Geneeskunde, Vol. 145, No. 9, 03.03.2001, p. 396-400.

Research output: Contribution to journalReview articleAcademicpeer-review

TY - JOUR

T1 - Williams-syndroom

T2 - nieuwe inzichten in genetische etiologie, pathogenese en kliniek

AU - van Hagen, J M

AU - Govaerts, L C

AU - de Coo, I F

AU - Gille, J J

AU - Nieuwint, A W

AU - Madan, K

PY - 2001/3/3

Y1 - 2001/3/3

N2 - Williams syndrome (WS) is a developmental disorder characterized by distinct facial features, congenital heart disease, mental retardation and a gregarious personality. The majority of people with this disorder have a submicroscopic deletion of genes in chromosome band 7q11.23. This deletion can be detected using fluorescence in situ hybridization (FISH). Although the condition is usually sporadic a few familial cases with autosomal dominant inheritance have been described. A clinical scoring system has been developed by Selicorni with which a diagnosis of 'Williams syndrome' can be made; in all patients in whom the diagnosis was made in this way FISH results were positive.

AB - Williams syndrome (WS) is a developmental disorder characterized by distinct facial features, congenital heart disease, mental retardation and a gregarious personality. The majority of people with this disorder have a submicroscopic deletion of genes in chromosome band 7q11.23. This deletion can be detected using fluorescence in situ hybridization (FISH). Although the condition is usually sporadic a few familial cases with autosomal dominant inheritance have been described. A clinical scoring system has been developed by Selicorni with which a diagnosis of 'Williams syndrome' can be made; in all patients in whom the diagnosis was made in this way FISH results were positive.

KW - Child

KW - Chromosomes, Human, Pair 7/genetics

KW - Diagnosis, Differential

KW - Gene Deletion

KW - Genetic Counseling

KW - Genetic Predisposition to Disease

KW - Humans

KW - In Situ Hybridization, Fluorescence

KW - Incidence

KW - Mosaicism

KW - Netherlands/epidemiology

KW - Phenotype

KW - Williams Syndrome/diagnosis

M3 - Review article

VL - 145

SP - 396

EP - 400

JO - Nederlands Tijdschrift voor Geneeskunde

JF - Nederlands Tijdschrift voor Geneeskunde

SN - 0028-2162

IS - 9

ER -