Case Reports

An unusual case of Trisomy 13

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Candice Feben, Jennifer Kromberg, Amanda Krause

Abstract


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. 


Authors' affiliations

Candice Feben, Division of Human Genetics, National Health Laboratory Service and School of Pathology, University of the Witwatersrand, Johannesburg, South Africa

Jennifer Kromberg, Division of Human Genetics, National Health Laboratory Service and School of Pathology, University of the Witwatersrand, Johannesburg, South Africa

Amanda Krause, Division of Human Genetics, National Health Laboratory Service and School of Pathology, University of the Witwatersrand, Johannesburg, South Africa

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Keywords

Trisomy 13; split hand malformation; aneuploidy; genetic testing

Cite this article

South African Journal of Child Health 2015;9(2):61-62. DOI:10.7196/SAJCH.840

Article History

Date submitted: 2014-08-21
Date published: 2015-01-29

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