Chromosome 2q duplications: Case report of a de novo interstitial duplication and review of the literature

Authors
Bird, LM Mascarello, JT
Citation
Lm. Bird et Jt. Mascarello, Chromosome 2q duplications: Case report of a de novo interstitial duplication and review of the literature, AM J MED G, 100(1), 2001, pp. 13-24
Citations number
45
Categorie Soggetti
Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF MEDICAL GENETICS
ISSN journal
01487299 → ACNP
Volume
100
Issue
1
Year of publication
2001
Pages
13 - 24
Database
ISI
SICI code
0148-7299(20010415)100:1<13:C2DCRO>2.0.ZU;2-J
Abstract
A patient with dir dup 2(q37.1q33.1) is described. Literature review of chr omosome 2q duplications suggests a consistent, though nonspecific, facial p henotype. Segregation of those cases that are "pure" duplications from thos e with accompanying monosomy for another chromosome suggests that a cleft p alate may not be attributable to the duplicated segment. (C) 2001 Wiley-Lis s, Inc.