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J Med Genet. 1991 January; 28(1): 54–55.
PMCID: PMC1016750

Balanced t(6;8)(6p8p;6q8q) and the CHARGE association.

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Pagon RA, Graham JM, Jr, Zonana J, Yong SL. Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. J Pediatr. 1981 Aug;99(2):223–227. [PubMed]
  • Tomkins DJ, Hunter AG, Uchida IA, Roberts MH. Two children with deletion of the long arm of chromosome 4 with breakpoint at band q33. Clin Genet. 1982 Dec;22(6):348–355. [PubMed]

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