Double Chromosomal Anomalies in Turner Syndrome: Rare Co-existence of Robertsonian Translocation with Monosomy X and Isochromosome XQ
Prachi Sinkar1, Sandhya Iyer1★★ Corresponding author
- 1Department 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.
Received: 17-09-2020; Revised: 27-11-2020; Accepted: 02-12-2020.
Volume 9, Issue 3 · pp. 421–423 · PUBLISHED 30 December 2020 · DOI: 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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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