DUPLICATION-2(Q11.2-Q21) - A PREVIOUSLY UNREPORTED ABNORMALITY

Authors
COOKE LB RICHARDS H LUNT PW BURVILLHOLMES L HOWELL RT MCDERMOTT A
Citation
Lb. Cooke et al., DUPLICATION-2(Q11.2-Q21) - A PREVIOUSLY UNREPORTED ABNORMALITY, Journal of Medical Genetics, 32(10), 1995, pp. 825-826
Citations number
3
Categorie Soggetti
Genetics & Heredity
Journal title
Journal of Medical Genetics → ACNP
ISSN journal
00222593
Volume
32
Issue
10
Year of publication
1995
Pages
825 - 826
Database
ISI
SICI code
0022-2593(1995)32:10<825:D-APUA>2.0.ZU;2-E
Abstract
A 7 year old boy is described with moderate learning disability, facia l dysmorphism, and a de novo duplication of chromosome 2 (q11.2-q21). There are few published reports of proximal 2q duplication, and none r eporting direct de novo duplication for this exact region.