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Research Article
Balanced t(6;8)(6p8p;6q8q) and the CHARGE association.
  1. J A Hurst,
  2. P Meinecke,
  3. M Baraitser
  1. Department of Clinical Genetics, Hospital for Sick Children, London.

    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.

    https://doi.org/10.1136/jmg.28.1.54

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