【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。更多还原

【Abstract】 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 karyo-type 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.更多还原