Cytogenetic diagnosis study of 46 cases of Turner Syndrome

Objective Turnet syndrome has various clinical manifestations of gonadal disgensis.To analyze the association between various chromosome karyotypes of Turner Syndrome and their clinic characteristics.Methods Mid-trimester amniocentesis was used to analyze fetal chromosomes in high-risk pregnant women. Adult blood drawing and culturing were used to analyze chromosomes in the patients.Results There were 9 cases of Turner Syndrome in the prenatal diagnostic samples and 37 cases of Turner Syndrome in adult samples. Among these Turner Syndrome patients, there were 25 cases of 45,X (54.35% of the total Turner Syndrome); 4 cases of mosaic 45,X/46,XX (8.70% of the total Turner Syndrome); 3 cases of mosaic 45,X/46,X,i(X) (6.52% of the total Turner Syndrome); 2 cases of 46,X,i(X) (4.35% of the total Turner Syndrome); 2 cases of 46,XX,inv(X)(4.35% of the total Turner Syndrome); 7 cases of 46,XY (15.22% of the total Turner Syndrome); 1 case of 45,X/46,XX/47,XXX, 1 case of 46,XX, t(X;3) and 1 case of 45,X/46,XX,del(X) (2.17% of the total Turner Syndrome).Conclusion To reduce the birth of Turner Syndrome fetus, appropriate techniques should be used to screen fetal chromosomes during gestation weeks in high-risk pregnant women.