Article

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

2026-07-25

Abstract excerpt

<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 anal...

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Literature Corpus work: a14fd134-aacf-54b4-b7b0-0568e0cf7919
DOI: 10.21203/rs.3.rs-10404999/v1

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