摘要
目的综合应用多种技术产前诊断1例Phelan-McDermid综合征。方法综合应用单核苷酸多态性微阵列(single nucleotide polymorphism array,SNP Array)、多重连接探针扩增(multiplex ligation dependent probe amplification,MLPA)、荧光原位杂交(fluorescence in situ hybridization,FISH)技术对胎儿进行产前诊断。结果SNP Array分析显示患儿携带染色体22q13.31q13.33区4.03 Mb的缺失,MLPA、FISH证实了上述发现。患儿父母FISH检测未发现易位或缺失。结论在产前诊断中综合应用多种技术进行判断,可为临床提供更为准确的信息,避免缺陷患儿的出生。
Objective To diagnose a fetus with Phelan-McDermid syndrome (PMS) using various techniques. Methods Single nucleotide polymorphism array (SNP Array), multiplex ligation-dependent probe amplification (MLPA), fluorescence in situ hybridization (FISH) were applied in conjunction for the prenatal diagnosis of the fetus. Results SNP Array detected a 4.03 Mb microdeletion at 22q13.31q13.33 in the fetus, which was confirmed by FISH and MLPA. FISH analysis of the parents suggested that the 22q13.31q13.33 deletion has a de novo origin. Conclusion Combined use of various techniques can enable accurate prenatal diagnosis and genetic counseling.
作者
罗玉琴
钱叶青
王丽雅
杨艳梅
孙义锡
金帆
董旻岳
Luo Yuqin;Qian Yeqing;Wang Liya;Yang Yanmei;Sun Yixi;Jin Fan;Dong Minyue(Department of Reproductive Genetics,Women’s Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310006,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2019年第8期841-843,共3页
Chinese Journal of Medical Genetics
基金
浙江省医药卫生科技计划项目(2017KY427)
浙江省教育厅科研项目(Y201737590).
