目的 分析疑有遗传性疾病的患儿染色体核型分析/相关基因检测情况。方法 2014年7月至2016年7月，本科疑有遗传性疾病的患儿47例，采用G-banding法进行染色体核型分析或选择相关疾病基因包进行检测，对疑似疾病进行筛查。结果 进行染色体核型分析38例，相关基因检测9例，发现异常分别为3例和7例，共10例，检测阳性率为21.28%；明确诊断例数分别为1例和4例，共5例，确诊率为10.64%。结论 染色体核型分析/相关基因检测是遗传性疾病疑似患儿的病因学诊断方法。
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.
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