发育异常患者90例染色体核型分析  

Analysis of chromosome karyotypes of 90 dysplastic patients.

作　　者：许秉乙[1,2] 郑贤红[1] 李哲[1] 高元奇[1] 云馨[1] 刘睿智[1] 

机构地区：[1]吉林大学白求恩医学院细胞生物学教研室吉林省生殖医学研究所,长春130021 [2]东北师范大学遗传与细胞研究所

出　　处：《中国优生与遗传杂志》2009年第1期46-47,45,共3页Chinese Journal of Birth Health & Heredity

基　　金：吉发改技联字[2004]987

摘　　要：目的探讨染色体核型异常与发育异常的关系。方法对2004年5月到2008年5月到吉林省生殖医学研究所临床基地进行遗传咨询的2485例患者进行外周血淋巴细胞培养,染色体核型分析。结果2485例遗传咨询者中,染色体核型异常257例,异常率为10.34%。在染色体异常核型中,性染色体异常154例,占59.92%;常染色体异常103例,占40.08%。其中发育异常患者90例,占35.02%。结论发育异常与染色体核型异常有着密切的关系,对发育异常患者进行染色体核型分析,有利于临床诊断,也可为遗传咨询提供依据。Objeetive： To analyze the relationship between abnormal karyotypes and abnormal fertility. Methods： By investigating 2, 485 genetie counseling patients in the Institute for Reproductive Medicine of Jilin Province, from May 8, 2004 to May 17, 2008 . Their peripheral blood lymphoeytes were cultured and the abnormal karyotype were analyzed. Results ： There were 257 eases of abnormal karyotypes in 2, 485 patients with genetic counseling and the abnormal rate is 10. 34%. In chromosomal abnormal karyotypes, there were 154 eases of sex chromosome abnormalities, accounting for 59.92% ; and there were 103 eases of euehromosome abnormali- ties, accounting for 40. 08%. And there were 90 eases of dysplasia, accounting for 35. 02%. Conelutions： Abnormal karyotype is closely related to dysplasia, karyotype analysis is eondueive to elinieal diagnosis, but also provide the basis for genetic eounseling.

关 键 词：染色体异常 核型分析 发育异常 

分 类 号：R394[医药卫生—医学遗传学]