【摘要】 本文对155例临床诊断为肌无力的患者及其双亲进行外周血体外培养,染色体核型分析,检查出染色体畸变患者30例,占19.35%;双亲染色体有畸变者4例,占2.58%。发生畸变染色体有NO.3、NO.6、NO.7、X、NO.8、NO.17、NO.19、NO.21及NO.22;染色体畸变类型有缺失,易位、断裂、裂隙及数目异常;结果显示肌无力形成与多条染色体畸变相关联,通过染色体核型分析可以为临床诊断,治疗,尤其是产前诊断提供帮助。更多还原

【Abstract】 Through the extracorporal caltivation of peripheral blood and chromosome Raryotype analysis of 155 cases of myasthenia patients diaguosed myasthenia together with their parents,we inspected there are 30 cases with chromosome aberration which account for 19.35% of the whole and 4 cases with parental chromosome aberration which account for 2.58% of the whale.Among the 155 cases.Chromosome aberration arises from No.3,No.6,No.7,X,No.8,No.17,No.19,No.21and No.22.And the types of aberration include deletion,translocation.Breakage,fissure and abnormal number.The results demonstrate that then formation of Myasthenia is connected with multi-chromosome aberration and the karyotype analysis will help the clinical diagnosis,treatment and especially the diagnosis before childborth.更多还原