Cytogenetic diagnosis study of 96 cases of Turner syndrome

Objective: Turner syndrome has various clinical manifestations of gonadal disgensis. To analyze the association between various chromosome karyotypes of Turner syndrome and their clinic character istics. Methods: The chromosomal karyotypes were examined in patients by periphery blood lymphocyte culture and G banding. Results: Chromosomal karyotype of 96 cases Turner syndrome cases were 45,X,(39 cases,40. 6%); 45,X /46,XX(21 cases,21. 9%); 46,XY(11 cases,11. 5%); 46,Xi( Xq)(10 cases,10. 4%); 46,X,del(X)(q22→qter)(6cases,6. 3%); 45,X/46,Xi(X)(q10; q10)(3cases,3. 1%);47,XXX(3cases,3. 1%); 45,X /46,X,del( X)( p22→pter))(2 cases,2. 1%); 45,X/46,X,r(X)(p22q28)(1cases,1. 04%). Conclusion: Structural aberrations and number abnormalities were the major abnormal karyotypes in patients of Turner syndrome,which were the important factor for incidence of amenorrhea,gonad dysplastic,mental retardation and so on. Appropriate techniques should be used to screen fetal chromosomes during gestation weeks in high-risk pregnant women.