Y/15 Chromosomal Translocation in Turner Syndrome: A Case of Unexplained Short Stature

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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.

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