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作 者:王依柔 李群 李辛 程青 李娟[1] 王剑[1] 沈亦平 王秀敏 沈永年[1] WANG Yirou;LI Qun;LI Xin;CHENTG Qing;LI Juan;WANG Jian;SHEN Yiping;WANG Xiumin;SHEN Yongnian(Shanghai Jiao Tong University,School of Medicine,Shanghai Children’s Medical Center,Shanghai 200127,China)
机构地区:[1]上海交通大学医学院附属上海儿童医学中心,上海200127
出 处:《临床儿科杂志》2018年第7期545-548,共4页Journal of Clinical Pediatrics
摘 要: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 615kb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 615kb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 1q24.3-1q25.3 is the pathogenic factor in this child.
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