Williams syndrome:new insights into genetic etiology, pathogenesis and clinical aspects
| Autor: | van Hagen, J M, Govaerts, L C, de Coo, I F, Gille, J J, Nieuwint, A W, Madan, K |
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| Jazyk: | Dutch; Flemish |
| Rok vydání: | 2001 |
| Zdroj: | van Hagen, J M, Govaerts, L C, de Coo, I F, Gille, J J, Nieuwint, A W & Madan, K 2001, ' Williams-syndroom : nieuwe inzichten in genetische etiologie, pathogenese en kliniek ', Nederlands Tijdschrift voor Geneeskunde, vol. 145, no. 9, pp. 396-400 . |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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