单核苷酸多态性微阵列分析对智力障碍和发育迟缓的遗传学诊断价值

目的: 评估单核苷酸多态性微阵列（SNP array）分析在智力障碍/发育迟缓（ID/DD）遗传学诊断中的应用价值。方法: 以2013年1月至2018年6月在浙江大学医学院附属妇产科医院因ID/DD行SNP array的145例患者为研究对象，采用CHAS软件与多种数据库对染色体拷贝数变异（CNV）进行分析。结果: 145例ID/DD患者通过SNP array技术发现致病性CNV 26例，可能致病CNV 6例，意义不明18例，可能良性14例，未见明显异常（包含良性）81例。结论: SNP array技术是一种高效和特异的遗传学分析技术，适用于ID/DD的遗传学病因诊断。

Application of single nucleotide polymorphism microarray in clinical diagnosis of intellectual disability or retardation

Objective: To assess the clinical application of single nucleotide polymorphism microarray (SNP array) in patients with intellectual disability/developmental delay(ID/DD). Methods: SNP array was performed to detect genome-wide DNA copy number variants (CNVs) for 145 patients with ID/DD in Women's Hospital, Zhejiang University School of Medicine from January 2013 to June 2018. The CNVs were analyzed by CHAS software and related databases. Results: Among 145 patients, pathogenic chromosomal abnormalities were detected in 32 cases, including 26 cases of pathogenic CNVs and 6 cases of likely pathogenic CNVs. Meanwhile, 18 cases of uncertain clinical significance and 14 cases of likely benign were identified, no significant abnormalities were found in 81 cases (including benign). Conclusion: SNP array is effective for detecting chromosomal abnormalities in patients with ID/DD with high efficiency and resolution.