苏州地区遗传咨询患者染色体异常分析  

Analysis of Abnormal Chromosome of Genetic Insult Patients in Suzhou

作　　者：段程颖[1] 王丽娟[1] 王挺[1] 偶健[1] 钟红菱[1] 傅文宇[1] 张经[1] 王玮[1] 李红[1] 

机构地区：[1]南京医科大学附属苏州医院苏州市立医院生殖与遗传中心,江苏苏州215002

出　　处：《苏州大学学报（医学版）》2010年第1期98-101,共4页Suzhou University Journal of Medical Science

摘　　要：目的探讨具有智力低下、性发育异常、原发闭经及不良孕产史患者染色体异常的发生率及其对临床的指导意义。方法取患者外周血细胞培养72h后制备染色体,常规G显带技术进行细胞遗传学分析,部分病例加用FISH技术,按照"人类细胞学命名的国际体制"进行染色体核型分析。结果1054例咨询患者总的异常检出例数为97例,检出率为9.2%。其中染色体多态性27例,占异常例数的2.5%。性染色体异常18例,占异常染色体的1.9%。常染色体异常52例,占异常核型的53.6%。结论染色体变异包括一些染色体多态性导致的智力低下、生殖异常的临床表现是存在的,所以开展染色体分析是必要的,对于遗传咨询患者的诊断和治疗具有重要意义。Objective To explore the rate of abnormal chromosome and the significance of clinical direction to the patient with low-intellectual ability,sex-developing abnormality,primary amenorrhea and bad gravidity history.Methods Patients＇ peripheral blood was cultured for 72 hours,and then chromosome suspension was prepared and routine G-banding analysis and FISH technique,chromosome karyotype analysis according to ＂ISCN＂ were applied.Results Ninety-seven cases of abnormality chromosome were found in 1 054 patients seeking genetics advice and the rate of abnormal was 9.2%.Chromosome polymorphism were occurred in 27 cases,the frequency of abnormal cases was 2.5%.Sex-chromosome abnormality were occurred in 18 cases,the frequency of abnormal cases was 1.9%.Autosome abnormality were occurred in 52 cases,the frequency of abnormal cases was 53.6%.Conclusion Chromosome mutation including some chromosome polymorphism induce the clinical phenotype of low-intellectual ability,abnormal infertility exists,so it is necessary to examine chromosome in those patients and it is important to diagnose and treat patients seeking genetics advice.

关 键 词：染色体 异常核型 遗传咨询 

分 类 号：R394[医药卫生—医学遗传学]