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

Details

Serval ID
serval:BIB_2112D5C24F8B
Type
Article: article from journal or magazin.
Collection
Publications
Title
Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus.
Journal
European Journal of Pediatrics
Author(s)
Kotzot D., Bernasconi F., Brecevic L., Robinson W.P., Kiss P., Kosztolanyi G., Lurie I.W., Superti-Furga A., Schinzel A.
ISSN
0340-6199 (Print)
ISSN-L
0340-6199
Publication state
Published
Issued date
1995
Volume
154
Number
6
Pages
477-482
Language
english
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. CONCLUSION: This study confirms that WBS has a unique clinical picture which can be diagnosed clinically, but also shows that the relative frequency of individual features may have been overemphasized in the past, and that a minority of patients may exist who are clinically indistinguishable from WBS but who appear to have no deletion at 7q11.
Keywords
Abnormalities, Multiple/genetics, Adolescent, Adult, Case-Control Studies, Child, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 7, Developmental Disabilities/genetics, Diagnosis, Differential, Elastin/genetics, Face/abnormalities, Female, Heart Defects, Congenital/genetics, Humans, Infant, Male, Pedigree, Phenotype, Syndrome
Pubmed
Web of science
Create date
14/03/2011 16:14
Last modification date
20/08/2019 12:57
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