THE WILLIAMS-SYNDROME - EVIDENCE FOR POSSIBLE AUTOSOMAL-DOMINANT INHERITANCE

Authors
SADLER LS ROBINSON LK VERDAASDONK KR GINGELL R
Citation
Ls. Sadler et al., THE WILLIAMS-SYNDROME - EVIDENCE FOR POSSIBLE AUTOSOMAL-DOMINANT INHERITANCE, American journal of medical genetics, 47(4), 1993, pp. 468-470
Citations number
11
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
47
Issue
4
Year of publication
1993
Pages
468 - 470
Database
ISI
SICI code
0148-7299(1993)47:4<468:TW-EFP>2.0.ZU;2-R
Abstract
We recently evaluated a mother and son with the Williams syndrome. Doc umentation of the clinical phenotype in two generations of this family suggests that some cases of the Williams syndrome are autosomal domin antly inherited. Recognition of the heritable nature of the Williams s yndrome should prompt careful clinical evaluation of other at-risk rel atives in order to provide accurate recurrence risk counseling. (C) 19 93 Wiley-Liss, Inc.