1例Dandy-Walker综合征合并Xq28重复综合征胎儿的遗传学分析

目的对1例超声检查提示为Dandy-Walker综合征和先天性心脏病的胎儿进行遗传学分析。方法取引产胎儿的皮肤样本,进行单核苷酸多态性微阵列分析(single nucleotide polymorphism array, SNP array),并采用多重连接依赖探针扩增技术(multiplex ligation-dependent probe amplification, MLPA)进行验证。胎儿父母外周血样本进行荧光原位杂交(fluorescence in situ hybridization, FISH)分析。结果 SNP array分析结果显示胎儿染色体6p25.3p25.1存在5.4 Mb缺失,Xq28存在4.2 Mb重复,均为致病性拷贝数变异。MLPA验证结果与SNP array结果一致。胎儿父母外周血的FISH分析结果显示未发现相关片段的缺失、重复或易位等异常。结论胎儿6p25.3p25.1缺失和Xq28重复均为新发变异,可能与超声提示Dandy-Walker综合征和先天性心脏病有关。

Genetic analysis of a fetus with Dandy-Walker syndrome and Xq28 duplication syndrome

Objective?To perform the genetic analysis for a fetus with Dandy-Walker syndrome and congenital heart disease revealed by ultrasonography.?Methods?The skin samples of induced labor fetus were analyzed by single nucleotide polymorphism array (SNP array) and verified by multiplex ligation-dependent probe amplification (MLPA). The peripheral blood samples of fetal parents were analyzed by fluorescence in situ hybridization (FISH).?Results?SNP array showed that the fetus carried a 5.4 Mb microdeletion at 6p25.3p25.1 and a 4.2 Mb microduplication at Xq28, which were pathogenic copy number variations. The verification results of MLPA were consistent with those of SNP array. FISH analysis of the peripheral blood samples from fetal parents showed no abnormalities such as deletion, duplication or translocation.?Conclusion?The microdeletion of 6p25.3p25.1 and microduplication of Xq28 in the fetus are new mutations, which may be related to Dandy-Walker syndrome and congenital heart disease indicated by ultrasonography.