一例软骨发育异常胎儿的遗传学分析  

Genetic analysis of a fetus with chondrodysplasia

作　　者：郭钦贤[1] 孙博[1] 冷建杭[1] 朱惠青[2] 黄佼[3] 怀磊[1] 

机构地区：[1]杭州市第一人民医院中心实验室,杭州310006 [2]杭州市第一人民医院产科,杭州310006 [3]杭州市第一人民医院内分泌科,杭州310006

出　　处：《中国优生与遗传杂志》2017年第12期96-98,F0004,共4页Chinese Journal of Birth Health & Heredity

基　　金：浙江省自然科学基金(LQ17H310001);杭州市科技发展计划(20140633B05);南京医科大学科技发展基金(2013NJMU231)

摘　　要：目的对1例软骨发育异常的胎儿进行遗传学分析,为产前诊断及评估其家庭的再发风险提供依据。方法对1例软骨发育异常的胎儿行G显带染色体核型分析、单核苷酸多态性微阵列(single nucleotide polymorphism-based arrays,SNP-Array)检测、荧光原位杂交(fluorescence in situ hybridization,FISH)及FGFR3基因突变检测。胎儿父母行外周血染色体核型分析、SNP-Array及FISH检测,以明确胎儿基因组变异的来源。结果胎儿脐血染色体核型为46,XY。脐血SNP-Array结果显示染色体Xp22.33区段存在3.7Mb微缺失,8q24.12区段存在538.4kb微重复,其缺失区段包含SHOX和ARSE等软骨发育相关基因;FGFR3基因未发生c.1138G>A/C突变。根据胎儿及其父母SNP-array检测和FISH验证,胎儿携带的8q24.12微重复遗传自母亲,Xp22.33微缺失为新发突变。结论 Xp22.33微缺失是造成胎儿软骨发育异常的遗传学因素,因其为新发突变,在其家庭复发风险低。Objective：To analyze a fetus presenting with chondrodysplasia and access the recurrence risk. Methods：G-banding analysis,single nucleotide polymorphism-based arrays（SNP-Array）,fluorescence in situ hybridization（FISH）and FGFR3 gene mutation detection were performed for the fetus. Karyotyping,SNP-Array and FISH were also carried out for the parents. Results：The karyotype of fetus was found to be 46,XY by G-banding analysis. However,a 3.7 Mb deletion at Xp22.33 and a 528.4 kb duplication at 8 q24.12 was detected by SNP-Array. Based on the results of SNP array and FISH analysis,The 8 q24.12 microduplication was inherited from its mother and the microdeletion of Xp22.33 was a de novo deletion. No mutation of c.1138 G〉A/C genotype was detected in the fetus. Conclusion：The Xp22.33 microdeletion was a de nove deletion and may have contributed to the abnormal sonographic features presented by the fetus. This couple therefore have a low recurrence risk.

关 键 词：软骨发育异常 单核苷酸多态性微阵列 微缺失 

分 类 号：R714.5[医药卫生—妇产科学]