Axenfeld-Rieger anomaly, hypertelorism, clinodactyly, and cardiac anomalies in sibs with an unbalanced translocation der(6)t(6;8)

Authors
Baruch, AC Erickson, RP
Citation
Ac. Baruch et Rp. Erickson, Axenfeld-Rieger anomaly, hypertelorism, clinodactyly, and cardiac anomalies in sibs with an unbalanced translocation der(6)t(6;8), AM J MED G, 100(3), 2001, pp. 187-190
Citations number
27
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
187 - 190
Database
ISI
SICI code
0148-7299(20010501)100:3<187:AAHCAC>2.0.ZU;2-V
Abstract
We describe two sibs with the unbalanced translocation der(6)t(6;8)(p25,1;q 24.23), making them monosomic for 6p25.1 --> 6pter and trisomic for 8q24.23 --> 8qter, The siblings both possess Axenfeld-Rieger Anomaly (ARA), hypert elorism, clinodactyly, and cardiac anomalies, but otherwise vary in the phe notypic manifestations of this unbalanced translocation, We compare them to previously described cases and a recently proposed syndrome of ARA, atrial septal defect, and sensorineural deafness. (C) 2001 Wiley-Liss, Inc.