Familial Williams-Beuren syndrome

Citation
K. Ounap et al., Familial Williams-Beuren syndrome, AM J MED G, 80(5), 1998, pp. 491-493
Citations number
12
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF MEDICAL GENETICS
ISSN journal
0148-7299 → ACNP
Volume
80
Issue
5
Year of publication
1998
Pages
491 - 493
Database
ISI
SICI code
0148-7299(199812)80:5<491:FWS>2.0.ZU;2-R
Abstract
Williams-Beuren syndrome (WBS) occurs sporadically; however, at least four familial cases of WBS have been described previously. We describe a mother and her son with typical WBS. The diagnosis of WBS in the son was confirmed by molecular cytogenetic analysis fluorescence in situ hybridization. He h ad a deletion of 7q11.23 at the ELN locus. The mother was diagnosed after t he identification of WBS in her affected son. She is deceased and was thus not studied by FISH. However, her combined symptoms make it very clear that she had WBS. Two traits uncommon in WBS were observed, unilateral renal hy poplasia in the mother and a hemivertebra at L5 in the son. Am. J. Med. Gen et. 80:491-493, 1998. (C) 1998 Wiley-Liss, Inc.