《Chinese Journal of Rehabilitation Theory and Practice》 ›› 2017, Vol. 23 ›› Issue (8): 965-970.doi: 10.3969/j.issn.1006-9771.2017.08.020

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Karyotype Analysis/Genetic Testing in Children Suspected with Hereditary Disease 

ZENG Fan-yong, LIU Jian-jun, ZHANG Yan, LI Nan-ling   

  1. 1. Capital Medical University School of Rehabilitation Medicine, Beijing 100068, China;
    2. Beijing Bo'ai Hospital, China Rehabilitation Research Centre, Beijing 100068, China
  • Received:2016-11-08 Revised:2017-03-19 Published:2017-08-25 Online:2017-08-24
  • Contact: ZENG Fan-yong. E-mail: zengfyzeng@sina.com

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 diagnosed 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.

Key words: hereditary diseases, karyotype analysis, genetic testing

CLC Number: