Karyotypic distribution of turner's syndrome cases

Cytogenetic analysis of 37 patients, who were referred to our laboratory because of primary amenorrhea ,growth retardation and Turner's syndrome stigmata were performed and X chromosome abnormalities were evaluated. Monosomi X constituted approximately half of our patients(48,6%).Mosaic karyotypes were determined in 16 cases(43,2%) and they distributed like that; nine with 45,X/46,XJ(Xq), three with 45,X/46,X,r(Xq), one with 45,X/46,X,+mar,one with 45,X/46,XX/47,XXX,one with 45,X/47,X,i(Xq), i(Xq) and one with 45,X/46,X . 45,X/46,X,i(Xq) was the most common structural abnormality observed in mosaic cases and its ratio was found most frequent than other centers values.On the other hand 45,X/46,X karyotype which was reported from other centers often was determined in only one case in our study group.