SMITH-FINEMAN-MYERS SYNDROME - REPORT ON A LARGE FAMILY

Citation
Jj. Wei et al., SMITH-FINEMAN-MYERS SYNDROME - REPORT ON A LARGE FAMILY, American journal of medical genetics, 47(3), 1993, pp. 307-311
Citations number
7
Categorie Soggetti
Genetics & Heredity
ISSN journal
01487299
Volume
47
Issue
3
Year of publication
1993
Pages
307 - 311
Database
ISI
SICI code
0148-7299(1993)47:3<307:SS-ROA>2.0.ZU;2-L
Abstract
Smith-Fineman-Myers syndrome is considered an X-linked mental retardat ion (XLMR) syndrome. Three families have been reported to date. Howeve r, none presented a typical pattern of X-linked inheritance. Here we r eported on 5 males with Smith- Fineman-Myers syndrome with similar phe notypic expression as in those cases reported previously; they were di stributed in 4 sibships of one large maternal kindred. This finding ad ds strong support to the hypothesis of the Smith-Fineman-Myers syndrom e being a rare XLMR syndrome. (C) 1993 Wiley-Liss, Inc.