特纳综合征遗传效应的探讨  

Genetic effect of Turner syndrome

作　　者：欧珊[1] 欧惠[2] 唐斌[1] 陈少科[1] 杜娟[1] 蒙达华[1] 郑陈光[1] 

机构地区：[1]广西壮族自治区妇幼保健院(厢竹院区),广西南宁530003 [2]广西卫生职业技术学院,广西南宁530000

出　　处：《中国妇幼保健》2016年第14期2905-2907,共3页Maternal and Child Health Care of China

基　　金：广西医药卫生自筹项目(Z2015238)

摘　　要：目的探讨特纳综合征的遗传效应。方法收集2009年1月-2012年7月在广西壮族自治区妇幼保健院就诊疑似特纳综合征的患者56例,采用常规染色体制片及G显带方法。结果在受检者中确诊32例(57.14%),并检出1例人类染色体新核型。X染色体数目异常22例,在异常核型中占68.75%。X染色体结构异常10例,在异常核型中占31.25%。其中45,X13例,嵌合体9例,等臂X患者6例,双着丝粒3例及X染色体片段丢失1例。结论特纳综合征是导致身材矮小、性腺发育不良、劲蹼及闭经等疾病的重要原因。Objective To explore the genetic effect of Turner syndrome.Methods Fifty-six patients suspected of Turner syndrome were collected from the hospital from January 2009 to July 2012,routine chromosome preparation technique and G banding were used in the study.Results Among the patients,32 patients（ 57.14%） were diagnosed definitely,one patient was found with new human abnormal karyotype.Twenty-two patients were diagnosed as numerical abnormalities of chromosome X,accounting for 68.75%.Ten patients were diagnosed as structural abnormality of chromosome X,accounting for 31.25% among the patients with abnormal karyotypes,the abnormal karyotypes included 45,X（ thirteen patients）,chimera（ nine patients）,isochromosome X（ six patients）,dicentric X chromosome（ three patients）,and del（ Xq）（ one patient）.Conclusion Turner syndrome is one of the important causes of short stature,gonadal dysgenesis,webbed neck,and amenornhea.

关 键 词：特纳综合征 性染色体异常 X染色体失活 

分 类 号：R394[医药卫生—医学遗传学]