DE-NOVO APPARENTLY BALANCED RECIPROCAL TRANSLOCATION BETWEEN 5Q11.2 AND 17Q23 ASSOCIATED WITH KLIPPEL-FEIL ANOMALY AND TYPE A1 BRACHYDACTYLY

Authors
FUKUSHIMA Y OHASHI H WAKUI K NISHIMOTO H SATO M AIHARA T
Citation
Y. Fukushima et al., DE-NOVO APPARENTLY BALANCED RECIPROCAL TRANSLOCATION BETWEEN 5Q11.2 AND 17Q23 ASSOCIATED WITH KLIPPEL-FEIL ANOMALY AND TYPE A1 BRACHYDACTYLY, American journal of medical genetics, 57(3), 1995, pp. 447-449
Citations number
7
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
57
Issue
3
Year of publication
1995
Pages
447 - 449
Database
ISI
SICI code
0148-7299(1995)57:3<447:DABRTB>2.0.ZU;2-B
Abstract
We report on a girl with Klippel-Feil anomaly, type A1 brachydactyly, and minor facial anomalies. She has an apparently balanced de novo rec iprocal translocation between 5q11.2 and 17q23. The possible significa nce of this chromosomal abnormality is discussed. (C) 1995 Wiley-Liss, Inc.