摘要目的:对1例病因不明、发育迟缓、特殊面容的患者进行基因检测，以明确其遗传学病因。方法:选取2021年5月27日因"婚后10个月夫妻同居、未避孕不孕"就诊于甘肃省妇幼保健院的1例患者为研究对象。收集患者的临床资料，提取患者及其父母的外周血DNA，进行全外显子组测序(WES)，对候选致病变异进行Sanger测序家系验证。结果:患者1p36.33p36.32区检测出2.54 Mb的杂合缺失， CHD3基因检测出c.1123G>C(p.E375Q)杂合变异，其父母均未携带上述变异。 结论:本研究确诊了1例染色体1p36缺失综合征合并Snijders Blok-Campeau综合征患者，为患者的遗传咨询提供了依据。

abstractsObjective:To explore the genetic basis for a patient with unexplained developmental delay and special facial features.Methods:A male patient admitted to the Maternal and Child Health Care Hospital of Gansu Province on May 27, 2021 due to infertility was selected as the study subject. Clinical data of the patient was collected, and genomic DNA was extracted from peripheral blood samples from the patient and his parents. Whole exome sequencing (WES) was carried out, and candidate variant was verified by Sanger sequencing.Results:The patient was found to harbor a 2.54 Mb deletion in 1p36.33p36.32 and a heterozygous c. 1123G>C (p.E375Q) variant of the CHD3 gene, neither of which was detected in his parents. Conclusion:The patient was diagnosed with Snijders Blok-Campeau syndrome in conjunct with 1p36 deletion syndrome, which has enabled genetic counseling for his family.