Double Chromosomal Anomalies in Turner Syndrome: Rare Co-existence of Robertsonian Translocation with Monosomy X and Isochromosome XQ

Sinkar, Prachi; Iyer, Sandhya

doi:10.5530/ajbls.2020.9.64

Case ReportAsian Journal of Biological and Life SciencesVol. 9 | Issue 3 | 2020 | pp. 421–423Open access

Double Chromosomal Anomalies in Turner Syndrome: Rare Co-existence of Robertsonian Translocation with Monosomy X and Isochromosome XQ

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¹ Department of Genetics, Thyrocare Technologies Limited, Plot No.D37/1, TTC Industrial area, MIDC, Turbhe, Navi Mumbai, Maharashtra, INDIA.

Correspondence: Sandhya Iyer
Department of Genetics, Thyrocare Technologies Limited, Plot No.D37/1, TTC Industrial area, MIDC, Turbhe, Navi Mumbai, Maharashtra, INDIA.
Email: sandhya.iyer@thyrocare.com

Published:: Dec 30, 2020
Received:: Sep 17, 2020
Accepted:: Dec 2, 2020
DOI:: 10.5530/ajbls.2020.9.64

How to cite

Sinkar, P., & Iyer, S. (2020). Double Chromosomal Anomalies in Turner Syndrome: Rare Co-existence of Robertsonian Translocation with Monosomy X and Isochromosome XQ. Asian Journal of Biological and Life Sciences, 9(3), 421–423. https://doi.org/10.5530/ajbls.2020.9.64

Abstract

Background and Aim:The co-existence of a Robertsonian translocation with Turner Syndrome (TS) or variant of Turner Syndrome (isochromosome Xq) is an uncommon phenomenon. In this report we present two cases with double chromosomal anomalies.Case Report:In the first case, we present findings from a 19 years old female, detected to harbor classic TS combined with t(13;14) Robertsonian translocation. The second case involves a 13 years old female, with isochromosome Xq10 (a known variant of Turner Syndrome) combined with t(13;14) Robertsonian translocation.Conclusion:Literature around double chromosome anomalies were found to be few and our case report is one of the first few to identify structural abnormality of X chromosome (isochromosome X) along with a t(13;14) Robertsonian translocation.

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Article metadata

Title	Double Chromosomal Anomalies in Turner Syndrome: Rare Co-existence of Robertsonian Translocation with Monosomy X and Isochromosome XQ
Authors	Prachi Sinkar; Sandhya Iyer
Affiliations	Department of Genetics, Thyrocare Technologies Limited, Plot No.D37/1, TTC Industrial area, MIDC, Turbhe, Navi Mumbai, Maharashtra, INDIA.
Corresponding author	sandhya.iyer@thyrocare.com
Journal	Asian Journal of Biological and Life Sciences
Volume / Issue	Vol. 9, Issue 3 (2020)