Karyotype Analysis/Genetic Testing in Children Suspected with Hereditary Disease
10.3969/j.issn.1006-9771.2017.08.020
- VernacularTitle:遗传性疾病疑似患儿染色体/基因相关检测结果分析
- Author:
Fanyong ZENG
;
Jianjun LIU
;
Yan ZHANG
;
Nanling LI
- Keywords:
hereditary diseases;
karyotype analysis;
genetic testing
- From:
Chinese Journal of Rehabilitation Theory and Practice
2017;23(8):965-970
- CountryChina
- Language:Chinese
-
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.
