46例Turner综合征患者临床特征及染色体分析

Cytogenetic diagnosis study of 46 cases of Turner Syndrome

目的Turner综合征患者身材矮小伴不同程度的性腺发育不全,探讨Turner综合征不同核型的遗传学特征、临床特点及其所占比例。方法高龄或高危孕妇产前诊断及成人外周血染色体核型分析。结果产前诊断发现Turner综合征9例,成人外周血检测发现Turner综合征37例,46例患者中45,X25例(54.35%);45,X/46,XX嵌合型4例(8.70%);45,X/46,X,i(X)嵌合型3例(6.52%);46,X,i(X)2例(4.35%);46,XX,inv(X)2例(4.35%);46,XY7例(15.22%);45,X/46,XX/47,XXX嵌合型,46,XX,t(X;3)和45,X/46,XX,del(X)各1例,分别占2.17%。结论Turner综合征包括X染色体数目异常和结构畸变等多种核型,均可不同程度导致女性不孕、智力低下及其他器官功能异常,应提倡优生优育,做好产前诊断。

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.