中国康复理论与实践2017，Vol.23Issue(8)：965-970,6.DOI:10.3969/j.issn.1006-9771.2017.08.020
遗传性疾病疑似患儿染色体/基因相关检测结果分析
Karyotype Analysis/Genetic Testing in Children Suspected with Hereditary Disease
曾凡勇 1刘建军 2张雁 3李南玲3
作者信息
- 1. 首都医科大学康复医学院,北京市100068
- 2. 中国康复研究中心北京博爱医院,北京市100068
- 折叠
摘要
Abstract
Objective To apply karyotype analysis/genetic testing in children suspected with hereditary disease. Methods From July, 2014 to July, 2016, a total of 47 cases in our department were tested using G-banding karyotype analysis or selected the relevant genetic package, for screening the related diseases. Results 38 cases received karyotype analysis, in which three cases were abnormal, and one case was diagnosed definitely. And nine cases received related genetic testing, in which seven cases were abnormal, and four cases were diag-nosed definitely. Totally, the positive rate was 21.28%, and the diagnosis rate was 10.64%. Conclusion Karyotype analysis/genetic testing is an etiological diagnosis method for highly suspected hereditary disease in children.关键词
遗传性疾病/染色体核型分析/基因检测Key words
hereditary diseases/karyotype analysis/genetic testing分类
医药卫生引用本文复制引用
曾凡勇,刘建军,张雁,李南玲..遗传性疾病疑似患儿染色体/基因相关检测结果分析[J].中国康复理论与实践,2017,23(8):965-970,6.
