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目的:探讨染色体微阵列分析（CMA）技术在表现为发育迟缓、智力障碍、孤独症谱系障碍（ASD）、癫痫和多发性先天性异常（MCA）等患儿中的诊断价值。方法:收集2014至2019年在北京大学第一医院收治的1 320例发育迟缓/智力障碍，孤独症、伴或不伴癫痫和MCA患儿，提取外周血DNA，用比较基因组杂交（array-CGH）和单核苷酸多态性（SNP-array）方法分析基因拷贝数变异（CNV），总结CMA技术在智力障碍或全面发育迟缓患儿遗传学病因检测的结果。结果:1 320例患儿中，染色体非整倍体异常10例，单亲二体6例，嵌合体1例。致病性拷贝数变异320例，可能致病性拷贝数变异23例，两者相加检出率为26%（343/1 320）。临床意义不明确CNV 107例，占比8.1%（107/1 320）。可能良性CNV 25例，占比2%（25/1 320）。良性CNV 20例，占比1.5%（20/1 320）。发育迟缓/智力障碍合并MCA的患儿检出率为39.8% （130/327）。结论:CMA具有分辨率高、覆盖全基因组的优势。可以检出显微镜下可见的染色体异常以及染色体微小缺失和重复，从而对智力障碍或全面发育迟缓患儿进行遗传病因学诊断。“,”Objective:To study the value of chromosome microarray analysis (CMA) application in children with developmental delay (DD), intellectual disability (ID), autistic spectrum disorder (ASD) and multiple congenital anomalies (MCA).Methods:Genomic DNA was extracted from peripheral blood samples. Array-based comparative genomic hybridization (array-CGH) analysis and single nucleotide polymorphism array (SNP-array) were performed in 1 320 children with DD/ID, ASD, with or without epilepsy and MCA who were admitted to Peking University First Hospital from 2014 to 2019. The results of genetic etiology test of CMA in children with mental retardation or global DD was summarized.Results:Of 1 320 samples, there were 10 cases of aneuploid abnormality, 6 cases of uniparental disomy and one case of mosaicism, respectively. Pathogenic copy number variations (CNVs) were found in 320 cases and pathogenic CNVs were detected in 23 cases, with a combined detection rate of 26% (343/1 320). CNVs of uncertain clinical significance occurred in 107 cases, accounting for 8.1% (107/1 320). There were 25 cases of possible benign CNVs, accounting for 2% (25/1 320), while benign CNVs were reported in 20 cases, accounting for 1.5% (20/1 320). The detection rate of MCA with DD/ID was 39.8% (130/327).Conclusions:CMA has the advantages of high resolution and covering the whole genome. It can detect the chromosomal abnormalities, microdeletions and duplications seen under the microscope, thus the genetic etiology of children with mental retardation or global DD can be diagnosed.