%0 Journal Article %A J A Hurst %A P Meinecke %A M Baraitser %T Balanced t(6;8)(6p8p;6q8q) and the CHARGE association. %D 1991 %R 10.1136/jmg.28.1.54 %J Journal of Medical Genetics %P 54-55 %V 28 %N 1 %X 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. %U https://jmg.bmj.com/content/jmedgenet/28/1/54.full.pdf