摘要目的:评估拷贝数变异(copy number variations，CNVs)分析在智力障碍/发育迟缓(intellectual disability/developmental delay, ID/DD)患者遗传学病因诊断中的价值。方法:对2015年1月至2019年12月本院确诊为ID/DD的530例患儿进行核型分析，对不能明确病因的120例核型正常或核型异常患儿应用单核苷酸多态性微阵列(single nucleotide polymorphism array, SNP-array)技术进行CNVs检测。结果:530例ID/DD患儿中检出染色体异常104例，染色体异常检出率19.62%；120例患儿中检出CNVs 44例，检出率36.67%，其中致病性CNVs 20例，检出率16.67%，可能致病性CNVs 6例，临床意义不明CNVs 10例，可能良性CNVs 7例，杂合性丢失(loss of heterozygosity, LOH)1例。结论:SNP-array可提高不明原因ID/DD患者的病因诊断率，为其预后咨询、早期干预及再发风险提供依据。

abstractsObjective:To assess the value of copy number variations(CNVs)and chromosomal karyotyping analysis for patients with intellectual disability/developmental delay (ID/DD).Methods:Chromosomal karyotype analysis was applied to 530 children diagnosed with ID/DD.Single nucleotide polymorphism array(SNP-array) was further used in 120 children with unknown etiology.Results:Among the 530 children with ID/DD, 104(19.62%)were detected with chromosomal abnormalities. For the 120 children analyzed by SNP-array, 44 (36.67%)were detected with CNVs, among which 20 were predicted as pathogenic, 6 as likely pathogenic, 10 as variants of unknown significance, 7 as likely benign, and 1 as loss of heterozygosity.Conclusion:SNP-array can facilitated elineation of the etiology of patients with ID/DD, which may provide a basis for their prognosis, consultation and intervention.