1056例细胞遗传学分析与临床意义的探讨

【作者】 刘志婷； 王军荣； 黄晶； 关宝杰； 王鹏；

【机构】 吉林大学第一医院； 长春市中医院吉林大学一院检验科；

【摘要】 对先天畸形、生长发育迟缓、智力低下、小睾丸、基始子宫、原发或继发闭经、流产及死胎等1056例患者,采用细胞遗传学技术,开展染色体检查,发现164例染色体异常核型,占全部受检病例的15．5％,并对其进行分析,其中21三体综合征(Down’s)47例,占染色体异常核型的28．7％, 性染色体异常61例,占染色体异常核型的37．2％,染色体结构异常45例,占染色体异常核型的27．4 ％,染色体多态性11例,占染色体异常核型的6．7％。结果表明,先天畸形、性器官发育不全、习惯性流产、不孕不育等,染色体异常是致病的重要原因。更多还原

【Abstract】 For congential malformation. growth retardation or mental retardation.micro-orchidia. infantile uterus . primary amenorrhea or secondary amenorrhea. spontaneous abortion and fetal death of 1056 patients ,we have apllied the teachnology of cytogenetics to carry out the chromosome examination ,it has been found out that there were 164 cases of chromosomal abnormal karyotypes .which is 15.5% of all cases .we have analysed them and conclude that there are 47 cases of 21-patau ’syndrome (down’s),which is 28.7% in the chromosomal abnormal karyotype ,there are 61 cases of sex chromosome abnormality .which is 37.2% in the chromosomal abnormal karyotype also .there are 45 cases of the chromosomal structural abnormality .and are 27.4% in the chromosomal abnormal karyotype .moreover .chromosome polymorphism are 11 cases,which is 6.7% in the chromosomal abnormal karyotype .thus .these results indicate that chromosomal abnomal karyotype in human are the main cause of congential malformation . hyoplasty of sexual organs. recurrent abortion and aciesis .更多还原