产前诊断Miller-Dieker综合征胎儿一例  

Prenatal diagnosis of a fetus with Miller-Dieker syndrome

作　　者：张禾璇 杨雪[1] 汤贤英 李广萍[1] 唐黛丽 黄智 Zhang Hexuan;Yang Xue;Tang Xianying;Li Guangping;Tang Daili;Huang Zhi

机构地区：[1]贵阳市妇幼保健院优生遗传科,贵州省产前诊断分中心,550001

出　　处：《中华医学遗传学杂志》2020年第11期1280-1282,共3页Chinese Journal of Medical Genetics

基　　金：贵阳市高层次创新型青年卫生人才培养计划项目(2018-017)。

摘　　要：目的对1例超声显示大脑外侧裂形态异常胎儿行遗传学诊断。方法应用染色体G显带和染色体微阵列技术对胎儿进行遗传学诊断。结果胎儿羊水染色体核型分析未见异常,染色体微阵列分析提示胎儿17p13.3-p13.2位置存在1.4 Mb的缺失,确诊为Miller-Dieker综合征。结论提高对Miller-Dieker综合征临床特征的认识,合理选择遗传学检测方法对诊断本病有重要价值。临床上应重视微缺失微重复病例的诊断,避免漏诊。Objective To carry out genetic diagnosis for a fetus.Methods Chromosome G-banding and chromosomal microarray analysis(CMA)were carried out for a fetus with abnormal morphology of lateral cerebral fissure.Results The karyotype of the fetus was normal,but CMA showed that it has carried a 1.4 Mb deletion at 17p13.3 region,which suggested a diagnosis of Miller-Dieker syndrome(MDS).Conclusion Familiarity with clinical features and proper selection of genetic testing method are crucial for the diagnosis of MDS.Attention should be paid to microdeletions and microduplications which can be missed by conventional chromosomal karyotyping.

关 键 词：Miller-Dieker综合征 染色体微阵列分析 染色体核型分析 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]