Turner综合征的染色体异常分析  

Analysis of Abnormal Chromosome in Turner Syndrome

作　　者：江静[1] 傅曼芬[1] 邱定众[1] 王伟[1] 陈凤生[1] 王德芬[1] 

机构地区：[1]上海第二医科大学瑞金医院儿内科,上海200025

出　　处：《上海第二医科大学学报》2003年第5期413-415,共3页Acta Universitatis Medicinalis Secondae Shanghai

摘　　要：目的 研究Turner综合征的终身高、生长激素水平、学历和性发育的变化。方法 230例Turner综合征进行染色体检查,66例行生长激素激发试验,43例随访学历和性发育的情况。结果 染色体核型分四组:第1组45,X,89例;第2组嵌合型,62例;第3组X染色体结构畸变,73例;第4组伴有Y染色体,6例。终身高139.3±8.3cm。生长激素完全缺乏18例,部分缺乏33例,正常15例。随访43例中,学历大部分在初中、技校和中专,18例有不同程度的性发育,25例无性发育。结论 Turner征患者终身高明显低于正常人群,生长激素分泌低下,学习能力降低,性发育不全。Objective To research changes of the terminal body height,level of growth hormone, sexual development and education resume in Turner syndrome ( TS ) patients. Methods Karyotyping, growth hormone provocation tests,follow - up observations of education resume and sexual development were studied. Results Two hundred and thirty TS were karyotyped in 4 groups: I , 45,X,n = 89 ;Ⅱ,mosai-cism,n =62;Ⅲ,with varous aberrations of structure of X chromosome, n =73; IV, with Y chromosome, n =6. Terminal body heights were 139.3±8. 3cm. ,66 growth hormone tests,Growth hormone deficiency n =18,partial of deficiency n =33 and normal n = 15. In the follow - up survey of 43 TS patients,the education resume mainly junior middle school,skill school and special school. Eighteen had various degrees of sexual development and 25 had none. Conclusion The terminal heights of TS patients were marked lower than normal, growth hormone was deficienty, learning ability declined and the sex gland was hypoplastic.

关 键 词：TURNER综合征 染色体异常 终身高 生长激素 学历 性发育 

分 类 号：R394[医药卫生—医学遗传学] R394[医药卫生—基础医学]