Holoprosencephaly associated with an apparent isolated 2q37.1 -> 2q37.3 deletion

Authors
Lehman, NL Zaleski, DH Sanger, WG Adickes, ED
Citation
Nl. Lehman et al., Holoprosencephaly associated with an apparent isolated 2q37.1 -> 2q37.3 deletion, AM J MED G, 100(3), 2001, pp. 179-181
Citations number
30
Categorie Soggetti
Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF MEDICAL GENETICS
ISSN journal
01487299 → ACNP
Volume
100
Issue
3
Year of publication
2001
Pages
179 - 181
Database
ISI
SICI code
0148-7299(20010501)100:3<179:HAWAAI>2.0.ZU;2-Z
Abstract
A female infant survived 51/2 hours after delivery at 33 weeks gestation. A utopsy showed a lobar variant of holoprosencephaly (HPE). Cytogenetic analy sis revealed a 2q37.1 --> 2q37.3 deletion. This case represents the fourth reported case of HPE associated with partial monosomy 2q37 and the first wi th an apparent isolated 2q37 deletion. Chromosome segment 2q37.1 --> 2q37.3 may harbor yet another locus important in forebrain development, which, wh en disrupted, can lead to brain malformations within the HPE spectrum. (C) 2001 Wiley-Liss, Inc.