MONOSOMY 6Q1 - SYNDROME DELINEATION

Authors
ROMIE SS HARTSFIELD JK SUTCLIFFE MJ DUMONT DP KOUSSEFF BG
Citation
Ss. Romie et al., MONOSOMY 6Q1 - SYNDROME DELINEATION, American journal of medical genetics, 62(2), 1996, pp. 105-108
Citations number
18
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
62
Issue
2
Year of publication
1996
Pages
105 - 108
Database
ISI
SICI code
0148-7299(1996)62:2<105:M6-SD>2.0.ZU;2-X
Abstract
We report on a girl with a de novo 6q1 interstitial deletion. To our k nowledge, this is the second reported case with a deletion of 6q11-q15 . We review the phenotype of monosomy 6q1. Our patient has manifestati ons similar to others with monosomy 6q1 including mental deficiency, g rowth retardation, short neck, and minor facial anomalies. (C) 1996 Wi ley-Liss, Inc.