Karyotypic Heterogeneity and Temporal Diagnostic Patterns in Turner Syndrome: Insights from a Large Referral Cohort in India

DARAM S *, ROJEESHA P, VENKATA SUBRAMANIAN K and ANJALI V

Department of Genetics and Molecular Medicine, Manipal TRUtest labs, Hyderabad, India.
* Corresponding Author
ORCID Details
 
Research Article
International Journal of Life Science Research Archive, 2026, 11(01), 093–101.
Article DOI: 10.53771/ijlsra.2026.11.1.0075
Publication history: 
Received on 15August 2026; revised on 24 September 2026; accepted on 26 September 2026
 
Abstract: 
Background: Turner syndrome (TS) is a common sex chromosome disorder in females resulting from total or partial X-chromosome monosomy. Given its marked phenotypic and cytogenetic heterogeneity, conventional karyotyping remains the diagnostic gold standard for identifying structural and numerical X-chromosome aberrations.
Aim: To characterise the cytogenetic spectrum and demographic trends of X-chromosome abnormalities in suspected Turner syndrome cases.
Methods: This retrospective study analysed peripheral blood lymphocyte cultures from 5,045 individuals referred for cytogenetic evaluation between 2021 and 2025 using standard Giemsa–trypsin G-banding (GTG-banding). Suspected TS cases were categorized by cytogenetic variant, age distribution, and temporal presentation.
Results: Diagnosed TS cases peaked in 2024, predominantly among individuals of reproductive age. Cytogenetic analysis revealed significant karyotypic diversity: classic 45,X monosomy comprised 58.5% of cases, followed by numerical mosaicism/anomalies (14.6%), isochromosomes [i(Xq)] (9.8%), structural deletions (8.5%), complex/rare rearrangements (4.9%), and other chromosomal variants (3.7%).
Conclusion: GTG-banding remains indispensable for detecting the diverse cytogenetic spectrum of Turner syndrome. Highlighting this karyotypic heterogeneity reinforces the need for prompt cytogenetic evaluation to ensure timely clinical management and genetic counselling.
 
Keywords: 
Monosomy X; Cytogenetic Variability; Karyotyping; Mosaicism; Structural X Chromosome Abnormalities.
 
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Copyright © 2026 Author(s) retain the copyright of this article. This article is published under the terms of the Creative Commons Attribution Liscense 4.0