大连地区78例Turner综合征的临床特征与染色体核型分析

目的探讨Turner综合征（TS）不同核型的遗传学特征、临床特点及其所占比例。方法成人外周血染色体核型分析,高危孕妇羊水染色体核型分析。结果成人外周血检测发现TS 75例,羊水检测发现TS 3例。78例患者中,45,XO 32例（41%）,45,XO/46,XX嵌合型10例（12.8%）,45,XO/46,XX/47,XXX嵌合型2例（2.6%）,45,XO/47,XXX嵌合型4例（5.1%）,46,X,i（X）4例（5.1%）,45,XO/46,X,i（X）嵌合型9例（11.5%）,46,X,del（Xp-）7例（9.0%）,46,X,del（Xq-）7例（9.0%）,45,XO/46,X,del（Xp11）嵌合型2例（2.6%）,45,XO/46,X,del（Xq21）嵌合型1例（1.3%）。结论 TS核型主要包括X单体型,X单体嵌合型和结构畸变型及其嵌合型三种,45,XO的X单体型为本综合症的主要类型;不同核型患者临床表现可存在差异;对有相关临床表现的女孩争取做到早诊断,早治疗;对部分具有一定生育能力的TS患者做好产前诊断,做到优生优育。

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.