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Case Report

Turner Syndrome – A Report on Three Mosaic and Variant Cases with Subtle Presentation

Suyasa Vyas , Suyasa Vyas , Pratibha Singh , Mathur Neha Satyaprakash , Kuldeep Singh

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Indian Journal of Genetics and Molecular Research 3(2):p 61-65, July - December 2014. | DOI:

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Abstract

Turner syndrome is one of the commonest surviving abnormal cytogenetic disorders which is mostly identified at the time of puberty. The cytogenetic abnormality can be in form of classic monosomy X, structural abnormality of X chromosome or mosaicism. The phenotype can be modified in the presence of the chromosomal make-up of an individual. Here we report a series of patients having milder phenotype prompting us to be more vigilant in girls having short height and obtaining cytogenetic studies at the earliest. 

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