7号染色体末端三体和13号染色体末端单体致胎儿多发畸形的产前诊断

Prenatal diagnosis of fetal multiple malformations caused by 7q partial trisomy and 13q partial monosomy

目的:产前诊断1例胎儿宫内发育迟缓、先天发育异常,脑积水,丹迪沃克综合征,脊柱裂,先天性心脏病,足内翻等的原因,为再次妊娠提供信息。方法:用常规G显带技术分析胎儿羊水染色体及其父母外周血染色体,并用多重连接探针扩增技术(MLPA)和微列阵比较基因组杂交芯片(array-CGH)进行精确分析。结果:胎儿13号染色体出现异常,具体异常情况不明确。MLPA检测显示,胎儿13q32-34出现缺失;array-CGH进一步分析显示,胎儿7号染色体部分三体,重复区域为q31.33-q36.3,片段大小34.74Mb,13号染色体部分单体,缺失区域为q31.3-q34,片段大小为25.88Mb;胎儿的异常染色体来源于父亲。结论:7q部分三体和13q部分单体是胎儿异常表型的主要原因,MLPA技术在产前胎儿检测中起着高效价廉的筛选作用,array-CGH为明确微小重复和缺失提供了技术手段。

Objective： To analysis the cause of fetus with IUGR （ intrauterine growth retardation） and multiple malformations. Methods： Karotypes of the fetus and the parents were determined by G-banding analysis. The genome DNA was detected using MLPA and array-CGH. Results：The karotype of the fetus was ambiguous abnormality, and MLPA （P095） showed that there was a deletion of 13q32-34, and array-CGH detection showed a size of 25.88Mb deletion in 13 q31.3-q34 and a size of 34.74Mb duplication in 7q31.33-q36.3. Conclusion： The main clinical manifestation of the fetus is caused by 7q terminal duplication and 13q terminal deletion. MLPA detection is an efficient and cheap screening method for prenatal diagnosis, and array-CGH detection is the technology that can informate the abnormal region definitely.