756例遗传咨询者的染色体分析  

The chromosome analysis of 756 cases of genetic counselors

作　　者：沈红霞[1] 林立[2] 

机构地区：[1]大理学院附属医院检验科,云南大理671000 [2]四川大学华西医院医学遗传室,四川成都610073

出　　处：《大理学院学报（综合版）》2007年第4期1-2,16,共3页Journal of Dali University

摘　　要：目的:探讨遗传性疾病的细胞遗传学基础。方法:对756例遗传咨询者进行外周血淋巴细胞染色体分析。结果:发现异常核型126例,异常检出率16.67%。结论:智力低下、流产、死胎、生育畸形儿、性发育不全及生殖力低下者的染色体检查,均有细胞遗传学改变。Objective： To investigate the cytogenetical basis of clinical genetic diseases. Methods： The chromosomes were obtained by culturing peripheral blood lymph cells collected from 756 cases for genetic counseling. Results： 126 out of 756 cases had karyotype aberration. The rate of abnormality is 16.66%. Conclusion： All cases which had mental retardation, miscarriage, dead fetus, abnormal growth and sexual development abnormality had cytogenetical abnormality and the clinical manifestation could be caused by chromosomal change.

关 键 词：遗传咨询 染色体异常 遗传病 

分 类 号：R596.1[医药卫生—内科学]