Balanced t(6;8)(6p8p;6q8q) and the CHARGE association.
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.
Hurst
J A
JA
Department of Clinical Genetics, Hospital for Sick Children, London.
Meinecke
P
P
Baraitser
M
M
D000015:Abnormalities, Multiple / Q000235:genetics*; D002754:Choanal Atresia / Q000235:genetics; D002896:Chromosomes, Human, Pair 6; D002898:Chromosomes, Human, Pair 8; D003103:Coloboma / Q000235:genetics; D003638:Deafness / Q000235:genetics; D004431:Ear, External / Q000002:abnormalities; D005158:Facial Paralysis / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D013771:Tetralogy of Fallot / Q000235:genetics; D014138:Tracheoesophageal Fistula / Q000235:genetics; D014178:Translocation, Genetic