Volume : V, Issue : V, May - 2015

VARIANT OF TURNER SYNDROME 45, X/46, XY Mosaicism: A Case Report

Dr. Shailaja C. Math

Abstract :

Turner syndrome (TS) is the consequence of complete or partial absence of one X chromosome in a phenotypic female usually characterized by short stature, gonadal dysgenesis and a variety of other clinical  features. About 50% of the patients have a 45,X karyotype, 19–20% show mosaic forms including 45,X/46,XY &  45,X/46,XX while the remaining (30%) have structurally abnormal sex chromosomes . Patients with 45,X/46,XY mosalcism exhibit a wide phenotypic spectrum, ranging from normal females, females with Turner syndrome or normal males  with mild hypospadias, to male or female pseudohermaphroditism. Those with Y chromosomal material are at risk for  developing gonadoblastoma or dysgerminoma later in life. We had a baby of two days old referred to us before gender assignment as it had presented with ambiguous genitalia & was suspected for CAH.

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Article: Download PDF   DOI : 10.36106/ijar  

Cite This Article:

Dr. Shailaja C. Math VARIANT OF TURNER SYNDROME 45, X/46, XY Mosaicism: A Case Report Indian Journal of Applied Research, Vol.5, Issue : 5 May 2015

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