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目的:对1例角膜混浊新生儿进行染色体拷贝数变异分析，明确其遗传学病因。方法:应用常规G显带染色体核型分析技术分析患儿及其父母的外周血染色体核型，用全基因组低深度测序及单核苷酸多态性微阵列芯片(single nucleotide polymorphism array, SNP array)对患儿及其父母进行基因组拷贝数变异分析。结果:G显带结果显示患儿及其父母染色体核型均未见异常，全基因组低深度测序结果显示患儿染色体8q21.11-q21.13区存在5.5 Mb杂合缺失，为新发突变，缺失区域包含n ZFHX4、PEX2等基因，该结果在SNP array平台得到验证。n 结论:患儿诊断为8q21.11缺失综合征，n ZFHX4可能是该综合征的关键基因之一。n “,”Objective:To explore the genetic etiology for a newborn with corneal opacity .Methods:The neonate and her parents were subjected to routine G-banding chromosomal karyotyping analysis. Copy number variation (CNV) was analyzed with low-coverage whole-genome sequencing (WGS) and single nucleotide polymorphism microarray (SNP array).Results:No karyotypic abnormality was found with the newborn and her parents. Low-coverage WGS identified a de novo 5.5 Mb microdeletion at chromosome 8q21.11-q21.13 in the neonate which encompassed the n ZFHX4 and n PEX2 genes. The result was confirmed by SNP array-based CNV analysis.n Conclusion:The newborn was diagnosed with chromosome 8q21.11 deletion syndrome. n ZFHX4 may be one of the key genes underlying the 8q21.11 microdeletion syndrome.n