Y/15 Chromosomal Translocation in Turner Syndrome: A Case of Unexplained Short Stature
Jeevan Kumar M 1,2,3*, Kalpana Gowrishankar 1, Teena Koshy 4, Satyanrayana Rentala 2, Lokesh Ravi 2, Rajasekaran Subbarayan 5,6*, Rupendra Shrestha 7*, Ankush Chauhan 6, Parijat Dutta 3, Sugandhini D 8
- Department of Medical Genetics, Kanchi Kamakoti CHILDS Trust Hospital, Nungambakkam, Chennai, Tamil Nadu 600034, India
- Department of Biomedical Sciences, The Apollo University, Murukambattu, Chittoor, Andhra Pradesh 517127, India
- Department of Genetic Engineering, SRM Institute of Science and Technology, Kattankulathur, Tamil Nadu 603203, India
- Department of Human Genetics, Faculty of Biomedical Sciences and Technology, Sri Ramachandra Institute of Higher Education and Research, Porur, Chennai, Tamil Nadu 600116, India
- Centre for Advanced Biotherapeutics and Regenerative Medicine, Faculty of Research, Chettinad Hospital and Research Institute, Chettinad Academy of Research and Education, Kelambakkam, India
- Centre for Herbal Pharmacology and Environmental Sustainability, Chettinad Hospital and Research Institute, Chettinad Academy of Research and Education, Kelambakkam, India;
- Department of Natural and Applied Sciences, Nexus Institute of Research and Innovation (NIRI), Lalitpur, Nepal
- Department of Medical Genetics, Central Reference Laboratory, Apollo Health and Lifestyle Limited, Chennai-600006, India
Publications: Biomedical Research and Therapy. 2026;13(7):8739-8746. doi: 10.15419/bmrat.v13i7.1080
Abstract – Background: Turner syndrome (TS) is a chromosomal disorder that affects females, characterized by the presence of a single X chromosome and typically presenting with short stature and gonadal dysgenesis. Short stature in TS may result from genetic factors, delayed growth, and delayed pubertal development. Mosaic TS patients carrying Y-chromosome material have a 7%–10% risk of developing gonadoblastoma. Case Presentation: A 7-year-old girl was referred for genetic evaluation due to unexplained short stature. Karyotyping using GTG-banding revealed rare mosaicism: 45,X[46]/45,X,der(15)t(Y;15)(p11.32;q10)[4], which was confirmed by fluorescence in situ hybridization (FISH). Further molecular analysis of peripheral blood lymphocytes revealed the presence of the sex-determining region Y (SRY) gene. Because the presence of Y-chromosome material in females increases the risk of developing gonadoblastoma, and after genetic counseling, the patient underwent prophylactic gonadectomy. Conclusion: This case represents a rare instance of a Y/15 chromosomal translocation associated with the TS phenotype. It highlights the importance of integrating cytogenetics, FISH, and molecular testing for early and accurate diagnosis of chromosomal abnormalities, effective genetic counseling, and appropriate medical management in children with unexplained short stature.
Cite: Kumar M, J., Dutta, P., Chauhan, A., Chauhan, A., Shrestha, R., Subbarayan, R., Ravi, L., Rentala, S., Koshy, T., Gowrishankar, K., & Sugandhini, D. Y/15 Chromosomal Translocation in Turner Syndrome: A Case of Unexplained Short Stature. Biomedical Research and Therapy. 2026:13(7):8739-8746.
