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,2020,9,3,421-423.
Published:January 2021
Type:Case Report
Author(s) affiliations:

Prachi Sinkar, Sandhya Iyer*

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


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.