ArticleMolecular cytogenetics2026
A case report on atypical chromosomal variations in Turner syndrome.
Article in Molecular cytogenetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundTurner syndrome (TS) is a common chromosomal abnormality caused by the complete or partial absence of one X chromosome. It affects approximately 1 in ~ 1,200 to 2,500 female births. In this case report, we examined the clinical details of a 21-year-old female for cytogenetic investigation due to the absence of menarche (primary amenorrhea). Karyotype analysis revealed [46,X, del(X)(q24)[22]/45,X[28]], representing a mosaic form of TS with a novel deletion of the long arm of the X chromosome.
conclusionThis case demonstrates that TS variants may present with menstrual disorder in the absence of typical dysmorphic features. Further investigation into rare TS variants in females lacking standard features is crucial for understanding genotype-phenotype correlations in TS.
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