摘要:软骨发育不全(achondroplasia,ACH)是四肢短小畸形中较常见的遗传性骨骼系统疾病,呈常染色体显性遗传,外显率100%,是由于成纤维细胞生长因子受体3(fibroblast growth factor receptor 3,FGFR3)基因突变所致[1],导致严重的身材矮小及头面和四肢畸形.本文通过分析FGFR3基因,对3例妊娠早期曾生过1胎ACH患儿的孕妇进行产前基因诊断,并对2例B超诊断为短肢畸形的胎儿进行基因诊断.
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