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South African Journal of Child Health

On-line version ISSN 1999-7671
Print version ISSN 1994-3032

Abstract

FEBEN, C; KROMBERG, J  and  KRAUSE, A. An unusual case of Trisomy 13. S. Afr. j. child health [online]. 2015, vol.9, n.2, pp.61-62. ISSN 1999-7671.  http://dx.doi.org/10.7196/SAJCH.840.

Trisomy 13 is a common chromosome abnormality with a recognisable clinical phenotype, which should prompt its early diagnosis. This case report describes a patient with Trisomy 13 with unusual limb malformations and expands on the clinical phenotype of the disorder.

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