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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 
 

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.[1]

References

  1. Balanced t(6;8)(6p8p;6q8q) and the CHARGE association. Hurst, J.A., Meinecke, P., Baraitser, M. J. Med. Genet. (1991) [Pubmed]
 
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