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Background <p>Turner 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.</p> Conclusion <p>This 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.</p>

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A case report on atypical chromosomal variations in Turner syndrome

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年2月19日

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  • Farnoush Aliazami,
  • Dariush D. Farhud,
  • Marjan Zarif-Yeganeh,
  • Shahrzad Sadat Shahmoradi,
  • Bahareh Tajik,
  • Somayeh Jaryani

摘要

Background

Turner 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.

Conclusion

This 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.