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

Abstract

Background and Aim: The co-existence of a Robertsonian translocation with Turner Syndrome (TS) or a 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-year-old female, detected to harbor classic TS combined with t(13;14) Robertsonian translocation. The second case involves a 13-year-old female, with isochromosome Xq10 (a known variant of Turner Syndrome) combined with t(13;14) Robertsonian translocation.Conclusion: Literature around double chromosome anomalies was found to be scarce, and our case report is one of the first few to identify a structural abnormality of the X chromosome (isochromosome X) along with a t(13;14) Robertsonian translocation.

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