|
|||||
|
|
| 染色体技术诊断遗传性疾病病因的应用 | |
| 引用本文： | 慕明涛,霍满鹏,刘俊俊,蒲力群,张静. 染色体技术诊断遗传性疾病病因的应用[J]. 中国妇幼保健, 2009, 24(11) |
| 作者姓名： | 慕明涛 霍满鹏 刘俊俊 蒲力群 张静 |
| 作者单位： | 延安大学医学院遗传学研究所,陕西,延安,716000 |
| 摘 要： | 目的:探讨应用染色体技术诊断某些遗传病病因的意义。方法:应用常规外周血淋巴细胞染色体标本制备,G显带、C显带,镜下核型分析。结果:526例患者中检出异常核型71例,检出率为13.49%。其中罗伯逊易位携带者9例,平衡易位携带者32例,倒位携带者5例,性染色体异常者14例,先天愚型及发育异常者11例。结论:染色体技术是某些遗传性疾病临床诊断必不可少的手段,染色体异常是导致某些遗传病发生的重要原因之一。 |
| 关 键 词： | 染色体技术 遗传性疾病 临床诊断 |
Application of chromosomal technology in the etiological diagnosis of hereditary diseases |
|
| Abstract: | Objective:To investigate the significance of chromosomal technology in clinical diagnosis of chromosome abnormality-related hereditary diseases.Methods:The routine techniques of G banding,C banding were used to analyse the chromosomal numbers and structure of peripheral hemocyto-lymphocyto cultivation.Results:71 cases(13.49%) were found chromosomal abnormal karyotypes in 526 cases with hereditary diseases,including 9 cases of Robertsonian translocation carrier,32 cases of balanced translocation carrier,5 cases of inversion carrier,14 cases of sex chromosome aberration and 11 cases of mongolism and dysplasia.Conclusion:The cytogenetic technology plays an important role in the diagnosis of chromosome abnormality-related diseases,and chromsome abnormalities is effect factors of some hereditary diseases. |
| Keywords: | Chromosomal technology Hereditary diseases Clinical diagnosis |
| 本文献已被 万方数据 等数据库收录！ | |