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

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.

Original languageDutch
Pages (from-to)396-400
Number of pages5
JournalNederlands Tijdschrift voor Geneeskunde
Volume145
Issue number9
Publication statusPublished - 3 Mar 2001

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