【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。更多还原

【Abstract】 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.更多还原