Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus

European Journal of Pediatrics
D KotzotA Schinzel

Abstract

To correlate presence or absence of a 7q11 microdeletion with the clinical picture of the Williams-Beuren syndrome (WBS), we investigated 29 patients with a clinical diagnosis of WBS or WBS-like features, aged 1-30 years, using molecular analysis and/or fluorescent in situ hybridization (FISH). Deletions at 7q11 were found in 75% of the patients (22 out of 29). Nine deletions occurred on a paternal, and ten on a maternal chromosome; three deletions were demonstrated by FISH only, and parental origin could thus not be determined. All deletion patients aged between 2 years and puberty displayed a distinct pattern of facial features (including periorbital fullness, short nose with flat bridge, wide mouth, and full lips and cheeks), the characteristic outgoing social behaviour, as well as moderate growth and mental retardation. Two-thirds (15 out of 22) had a cardiovascular malformation, but only one third (7 of 22) had supravalvular aortic stenosis (SVAS). A stellate iris pattern was also present in one-third of the patients only. In the four adult patients with 7q11 deletions, there was prominence of the lower lip whereas fullness of cheeks and periorbital tissue was not seen. This study confirms that WBS has a unique clinical pi...Continue Reading

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Citations

Jan 11, 2000·Genetic Testing·J ZhangM R Wallace
Dec 24, 1997·Journal of the American Academy of Child and Adolescent Psychiatry·M W StateE Dykens
Nov 28, 2009·Pathologie-biologie·A Goldenberg, P Saugier-Veber
Apr 14, 2016·Case Reports in Anesthesiology·Federico BoncagniFrancesco Ventrella
Jan 8, 1999·American Journal of Medical Genetics·K OunapM Lipping-Sitska
Jan 5, 1999·The Journal of Biological Chemistry·M C ZhangJ M Davidson
Dec 22, 2006·Pró-fono : revista de atualização científica·Natalia Freitas RossiCélia Maria Giacheti

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