Ring chromosome 7 and sacral agenesis

Citation
L. Rodriguez et al., Ring chromosome 7 and sacral agenesis, AM J MED G, 94(1), 2000, pp. 52-58
Citations number
22
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF MEDICAL GENETICS
ISSN journal
0148-7299 → ACNP
Volume
94
Issue
1
Year of publication
2000
Pages
52 - 58
Database
ISI
SICI code
0148-7299(20000904)94:1<52:RC7ASA>2.0.ZU;2-Y
Abstract
A ring chromosome 7 was found in a 19-month-old girl with microcephaly, gro wth and developmental delay, multiple angiomas, and partial sacral agenesis , Absent sacrum is a frequent finding in patients with 7q terminal deletion s; in fact, genes involved in the sacral agenesis are localized in 7q36, Ho wever, this anomaly was not described previously in patients with a ring ch romosome 7, High resolution G-banding chromosome and fluorescence in situ h ybridization (FISH) demonstrated that our patient lost this region during r ing formation. (C) 2000 Wiley-Liss, Inc.