Turner Syndrome is one of the most common chromosomal aneuploidy seen in humans with an incidence of about 1: 2500 newborn females. Approximately 60% patients with Turner syndrome have 45, X karyotype while others show X chromosome abnormalities like deletions of long arm or short arm, isochromosome or ring chromosome. About 6-9% cases also show presence of Y chromosome or Y derived sequences. Turner Syndrome patients with ovarian dysgenesis and Y Cell-line / Y derived sequences have higher

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... of developing gonadal tumors. In the present study we report on a patient with Turner Syndrome showing mosaicism with Y cell line. Case Report: We report a 19 yrs old unmarried female who reported to Gyn OPD with primary Amenorrhoea. She was referred to our lab for cyto-molecular genetic analysis. Routine karyotype was done using standard protocol for Giemsa trypsin banding. Polymerase chain reaction (PCR) for SRY gene was also carried out to identify presence of Y cell line or Y derived sequences. The Cytogenetic results were confirmed by Fluorescent In Situ Hybridization (FISH) using probes for chromosomes X and Y. The investigations revealed the patient to be a Turner mosaic with karyotype 45, X in 65% cells, 46, XX in 10% cells; and the remaining 25% of the cells showing presence of Y-chromosome with karyotype 46, XY. Conclusion: The detection of Y-cell line is important in view of 10-30% higher risk of developing gonadal tumors. Prophylactic gonadectomy is recommended to patients of Turner syndrome with Y-chromosome mosaicism and ovarian dysgenesis.