目的　分析临床罕见的1号染色体片段缺失的临床特征以及基因特点。方法　回顾1例1号染色体片段缺失 伴重度矮小以及生长发育落后患儿的临床资料，并复习相关文献。 结果　患儿，男， 3岁。宫内发育迟滞，出生后匀称性矮 小并有特殊面容，伴多发畸形（短指、宽指、小头畸形等）、隐睾、小阴茎、语言发育迟缓。染色体核型分析为46，XY，染色 体结构未见异常。基因芯片检测显示1号染色体q24.3~q25.3区域存在一段大小为14 615 kb的杂合缺失。结论　患儿致 病原因为1号染色体q24.3~q25.3区域存在的大小为14 615 kb的杂合缺失。

　Objective　To investigate the clinical features and genetic characteristics of deletions of the long-arm of chromosome 1 which is rare seen clinically. Methods　The clinical data from one child with chromosome 1 deletion who is severely dwarf and has development delay were analyzed, and relevant literatures were reviewed. Results　Three-year-old boy had intrauterine growth retardation, postnatal growth restriction and special face, with multiple malformations (short finger, wide finger, small head deformity, etc.), cryptorchidism, small penis, language retardation. Chromosomal microarray analysis results demonstrated a 14615 kb heterozygous deletion in 1q24.3-1q25.3. Conclusions　The 14615 kb heterozygous deletion in 1q24.31q25.3 is the pathogenic factor in this child.