Abstract
Turner syndrome (TS) is a genetic condition where phenotypic females have a total or partial monosomy of the X chromosome. Approximately 12% of individuals with TS are mosaic for Y chromosome material (TS+Y). TS+Y individuals have an approximately 12% increased risk for gonadoblastoma, a germ cell neoplasm with malignant transformation potential. Current clinical management guidelines for TS+Y females recommends bilateral gonadectomy to eliminate future risk for malignant transformation. Therefore, detection of occult Y chromosome material is crucial when considering prophylactic surgery, as we well as potential for future fertility.
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