Williams-syndroom: nieuwe inzichten in genetische etiologie, pathogenese en kliniek

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

Williams-syndroom: nieuwe inzichten in genetische etiologie, pathogenese en kliniek

Translated title of the contribution: 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

Clinical Genetics (VUmc)

Research output: Contribution to journal › Review article › Academic › peer-review

3 Citations (Scopus)

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 contribution	Williams syndrome: new insights into genetic etiology, pathogenesis and clinical aspects
Original language	Dutch
Pages (from-to)	396-400
Number of pages	5
Journal	Nederlands Tijdschrift voor Geneeskunde
Volume	145
Issue number	9
Publication status	Published - 3 Mar 2001

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

Cite this

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title = "Williams-syndroom: nieuwe inzichten in genetische etiologie, pathogenese en kliniek",

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",

author = "{van Hagen}, {J M} and Govaerts, {L C} and {de Coo}, {I F} and Gille, {J J} and Nieuwint, {A W} and K Madan",

year = "2001",

month = mar,

day = "3",

language = "Dutch",

volume = "145",

pages = "396--400",

journal = "Nederlands tijdschrift voor geneeskunde",

issn = "0028-2162",

publisher = "Bohn Stafleu van Loghum",

number = "9",

}

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

C2 - 11253493

VL - 145

SP - 396

EP - 400

JO - Nederlands tijdschrift voor geneeskunde

JF - Nederlands tijdschrift voor geneeskunde

SN - 0028-2162

IS - 9

ER -