RESUMO
OBJECTIVE: To assess the effectiveness of hidden Y chromosome and marker chromosome identification by FISH (Fluorescence in Situ Hybridization) in Turner syndrome. METHODS: Data was collected retrospectively from 25 patients with or without marker chromosome confirmed Turner syndrome by chromosomal study in Department of Obstetrics and Gynecology, Yonsei University Medical Center. FISH was performed on all patients for hidden Y chromosome and marker chromosome identification. RESULTS: FISH showed the origin of marker chromosome in 9 patients whose karyotypes were 45,X/ 46,X+mar, 5 patients were positive for SRY gene. Of 16 patients whose karyotypes were 45,X or 45,X/46,XX, there was no hidden Y chromosome indentification by FISH. CONCLUSION: FISH for marker chromosome identification in Turner syndrome is a rapid and effective procedure. But to enable widespread use of hidden Y chromosome identification by FISH in Turner syndrome, further studies involving many cases are warranted.