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

- 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.