A case report on atypical chromosomal variations in Turner syndrome
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.
Authors
- Farnoush Aliazami (ORCID: https://orcid.org/0000-0001-5638-4064)
- Marjan Zarif-Yeganeh
- Shahmoradi Ss
- Dariush D Farhud
- Somayeh Jaryani
- Bahareh Tajik
Institutions
- Iranian Academy of Medical Sciences (IR)
- Islamic Azad University Medical Branch of Tehran (IR)
- Omid Fertility Clinic (IR)
- Tehran University of Medical Sciences (IR)
Publication Details
- Journal
- Molecular Cytogenetics
- Published
- 2026-02-19
- DOI
- https://doi.org/10.1186/s13039-025-00745-0
- Primary Topic
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00