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.
出处
《大理学院学报（综合版）》
CAS
2007年第4期1-2,16,共3页
Journal of Dali University
关键词
遗传咨询
染色体异常
遗传病
genetic counseling
chromosomes abnormality
clinical diseases
