摘要
目的 应用染色体微阵列分析(chromosomal microarray analysis,CMA)联合荧光原位杂交技术(fluorescence in situ hybridization,FISH)产前诊断两例Pallister-Killian综合征(Pallister-Killiansyndrome,PKS),探讨其在产前诊断中的应用价值.方法 超声介导下抽取脐静脉血,行染色体G显带分析、CMA、FISH检测.结果 脐带血染色体G显带结果显示两例胎儿的染色体核型分别为mos 47,XX,+i(12)(p10)[3]/46,XX[197]和mos 47,XY,+i(12)(p10)[5]/46,XY[95],CMA结果显示两例胎儿均为12号染色体短臂重复,间期FISH检测结果为12号染色体短臂四体嵌合,结合超声表现,两例胎儿均确诊为PKS.结论 通过产前超声检查、脐带血染色体G显带核型分析、CMA、FISH可对PKS进行产前诊断.
Objective To carry out prenatal diagnosis for two cases of Pallister-Killian syndrome(PKS)using combined chromosomal microarray analysis(CMA)and fluorescence in situ hybridization(FISH).Methods Umbilical cord blood was sampled from the two fetuses and subjected to G-banding chromosomal karyotyping,CMA and FISH assay.Results Chromosomal karyotyping showed that the two fetuses were mos 47,XX,+i(12)(p10)[3]/46,XX[197]and mos 47,XY,+i(12)(p10)[5]/46,XY[95],respectively.CMA showed that both had carried duplication of 12p.The results of interphase FISH confirmed mosaicism of 12p tetrasomy.Combined with ultrasonographic findings,both fetuses were diagnosed as PKS.Conclusion Prenatal ultrasound examination,karyotype analysis of umbilical cord blood,G-banded chromosomal analysis,CMA and FISH may be used in conjunct for the prenatal diagnosis of PKS.
作者
王挺
任丛勉
郭莉
卢建
陈汉彪
黄华梅
Wang Ting;Ren Congmian;Guo Li;Lu Jian;Chen Hanbiao;Huang Huamei(Medical Genetics Center,Guangdong Women and Children Health Care Hospital,Guangzhou,Guangdong 51 1442,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2019年第6期571-573,共3页
Chinese Journal of Medical Genetics
