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

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Article · Volume 9, Issue 3 · pp. 421–423

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

Prachi Sinkar1, Sandhya Iyer1

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

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.

Keywords: Isochromosome XQ; Karyotype; Primary amenorrhea; Robertsonian translocation; Turner syndrome

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