目的 提高对4q21/q22 缺失综合征的临床和基因特征的认识。方法 回顾性分析1 例有特殊面容及体格智力发育迟缓患儿的临床资料及基因检测结果。结果 患儿，女，2个月。表现为喂养困难，发育迟缓，新生儿期肌张力低下，头大，前额及枕部突出，小手足；合并先天性心脏病。应用染色体微阵列芯片分析技术发现患儿4q21.21q22.2 区域有一缺失，缺失片段大小约15.26 Mb，至少包含76个基因，确诊为4q21/q22缺失综合征。结论 患儿有典型面容特征，发育迟缓，伴其他系统累及时应考虑4q21/q22缺失综合征可能，染色体芯片检测技术有助于明确诊断。

Objective To enhance the understanding of clinical characteristics and genetic testing of chromosome 4q21/q22 deletion syndrome. Methods Chromosomal microarray analysis was used to detect genetic change in a child with special facial appearance and development delay. Results A 15.26-Mb deletion containing 76 geinges in chromosome 4q21.21q22.2 was identified. Thus, this girl was diagnosed as chromosome 4q21/q22 deletion syndrome. Conclusions Chromosome 4q21/q22 deletion syndrome has varied clinical manifestations including typical characteristics (such as absolute or relative macrocephaly, megalencephaly with a characteristic head shape and facial appearance, profound hypotonia, small hands and feet, short limbs, feeding difficulties), mental retardation/severe developmental delay, and other system abnormalities ( such as congenital heart disease, seizure, kidney cysts, etc). The diagnosis of chromosome 4q21/q22 deletion syndrome relies on chromosomal microarray analysis.