Balanced t(6;8)(6p8p;6q8q) and the CHARGE association.
Open Access
- 1 January 1991
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 28 (1) , 54-55
- https://doi.org/10.1136/jmg.28.1.54
Abstract
A girl is described with bilateral retinal colobomata, Fallot's tetralogy, unilateral choanal atresia, abnormalities of the external ears, bilateral sensorineural deafness, a unilateral facial nerve palsy, and a tracheo-oesophageal fistula. A clinical diagnosis of the CHARGE association was made. She had an apparently balanced whole arm translocation involving chromosomes 6 and 8. Parental karyotypes were normal.Keywords
This publication has 2 references indexed in Scilit:
- Two children with deletion of the long arm of chromosome 4 with breakpoint at band q33Clinical Genetics, 1982
- Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE associationThe Journal of Pediatrics, 1981