Clinic characteristics and karyotypes analysis study of 78 cases of Turner Syndrom

Objective:To evaluate the relationship between various chromosome karyotypes of Turner Syndrome(TS) and their clinic characteristics.Methods: Adult blood lymphocytes were used to analyze the chromosome karyotypes in the patients.Amniotic fluid culture was used to analyze fetal chromosome karyotypes in high-risk pregnant women.Results: There were 75 cases of TS in adult samples,and 3 cases of TS in the prenatal diagnostic samples.Among 78 TS patients,there were 32 cases of 45,XO(41%);10 cases of mosaic 45,XO/46,XX(12.8%);2 cases of mosaic 45,XO/46,XX/47,XXX(2.6%);4 cases of mosaic 45,XO/47,XXX(5.1%);4 cases of 46,X,i(X)(5.1%);9 cases of mosaic 45,XO/46,X,i(X)(11.5%);7 cases of 46,X,del(Xp-)(9.0%);7 cases of 46,X,del(Xq-)(9.0%);2 cases of mosaic 45,XO/46,X,del(Xp11)(2.6%);1 case of mosaic 45,XO/46,X,del(Xq21)(1.3%).Conclusion: Turner Syndrome consisted of 45,XO;with mosaicism of 45,XO and with aberration of X chromosome structure and mosaicism.Among these TS patients,45,XO was the main type.Different petients behave differently.It is importance to be early diagnosis and early treatment for the relevant clinical manifestations of girls.Some TS patients have certain fertility.For these patients,good prenatal diagnosis should be used to promote prenatal care.