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。
Objective ： To investigate the significance of chromosomal technology in clinical diagnosis of chromosome abnormality - related hereditary diseases. Methods： The routine techniques of G handing, C banding were used to analyse the chromosomal numbers and structure of peripheral hemocytolymphocyto 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.
出处
《中国妇幼保健》
CAS
北大核心
2009年第11期1524-1526,共3页
Maternal and Child Health Care of China
关键词
染色体技术
遗传性疾病
临床诊断
Chromosomal technology
Hereditary diseases
Clinical diagnosis
