摘要目的:分析1例7号染色体短臂(7p)远端的7p22.2-p22.1微重复患儿的临床特点及遗传学特征。方法:选择2023年3月21日就诊于郑州大学附属儿童医院的1例患儿作为研究对象。收集患儿临床资料，应用基因组拷贝数变异测序(copy number variation sequencing，CNV-seq)技术对其进行遗传学分析。结果:患儿，男，剖宫产，表现为言语和运动发育障碍、智力低下、颅面异常、甲状腺功能减退、肝损伤及中度贫血等。患儿CNV-seq结果显示其染色体7p22.2-p22.1区存在1.90 Mb的重复，与7p22.1微重复综合征相关。结论:7p22.2-p22.1重复可能是该患儿的遗传学病因。发育和言语迟缓、颅面畸形及骨骼、心血管异常是7p22.1微重复患儿主要的临床表型。

abstractsObjective:To analyze the clinical and genetic features of a child with 7p22.2-p22.1 microduplication at the distal end of the short arm of chromosome 7 (7p).Methods:A child who had presented at the Affiliated Children’s Hospital of Zhengzhou University on March 21, 2023 was selected as the study subject. Clinical data of a child was collected, and copy number variation sequencing (CNV-seq) was carried out.Results:The child was found to have speech and motor developmental disorders, mental retardation, craniofacial abnormalities, hypothyroidism, liver damage, and moderate anemia. CNV-seq result of the children showed there was a 1.90 Mb microduplication in the 7p22.2-p22.1 region, which was related to the 7p22.1 microduplication syndrome.Conclusion:7p22.2-p22.1 duplication may be the genetic cause of this child. Developmental and speech delays, craniofacial malformations, and skeletal and cardiovascular abnormalities are the main clinical phenotypes of 7p22.1 microduplication.