Unbalanced X;14 Translocation Leading to Turner Syndrome Phenotype: a case report and review of literature

<title>Abstract</title> <p> Turner syndrome (TS) is typically caused by complete or partial monosomy X. While variable deletion of X chromosome may contribute to phenotypic variability, unbalanced X-autosome translocations leading to atypical Turner syndrome phenotypes remain rarely reported. Here, we describe a 6-year-old girl presenting with growth retardation and recurrent acute otitis media. WES and CMA analysis revealed a <italic>de novo</italic> unbalanced X;14 translocation, resulting in a derivative X chromosome with a 15.4 Mb deletion at Xp22.33–p22.2 and a 29.2 Mb duplication at 14q24.3–q32.33. Despite the large 14q duplication, the patient exhibited no clinical features of trisomy 14 syndrome. This case expands the genetic spectrum of TS and illustrates the protective effect of XCI spreading in unbalanced X-autosome translocations. It emphasizes the importance of comprehensive genetic testing in identifying structural abnormalities. </p>