Interstitial deletion of 5q33.3q35.1 in a girl with mild mental retardation

Citation
S. Spranger et al., Interstitial deletion of 5q33.3q35.1 in a girl with mild mental retardation, AM J MED G, 93(2), 2000, pp. 107-109
Citations number
15
Categorie Soggetti
Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF MEDICAL GENETICS
ISSN journal
01487299 → ACNP
Volume
93
Issue
2
Year of publication
2000
Pages
107 - 109
Database
ISI
SICI code
0148-7299(20000717)93:2<107:IDO5IA>2.0.ZU;2-5
Abstract
Constitutional interstitial deletions of 5q are uncommon. The corresponding phenotype is not well defined. But severe mental retardation seems to be a consistent manifestation. We describe a 4-year-old girl with a de novo del etion of 5q33.3q35.1 presenting only with mild psychomotor delay, minor fac ial anomalies, and seizures. (C) 2000 Wiley-Liss, Inc.