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Pediatrics Education and Research

Volume  4, Issue 2, January - June 2016, Pages 97-99
 

Case Report

Partial Trisomy of 13q and Partial Monosomy of 6q; A Patau Syndrome Variant

Pooja Totla*, S.P. Rathi**, S.V. Kondekar***

*Resident Doctor, **Professor, ***Associate Professor, Department of Pediatrics, T.N. Medical College, Mumbai.

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DOI: DOI: https://dx.doi.org/10.21088/per.2321.1644.4216.10

Abstract

 Trisomy 13 often presents with classical features of Patau Syndrome. Atypical features are likely to suggest a mixed phenotype; like associated 6q monosomy. In this case, skeletal features associated with 6q monosomy domnated the phenotype. 

Keywords: Patau Syndrome; Phenotype.


Corresponding Author : Pooja Totla*