摘要
目的 探讨1例罕见的胎儿染色体异常的表型以及发生机制.方法 通过产前超声检查、G显带核型分析以及高通量测序对胎儿及其家系成员进行研究.结果 胎儿超声表现包括Dandy-Walker综合征、生长受限、右心发育不良等;羊水染色体核型为47,XY,t(11;22)(q23.3;q11.2),+der(22) t(11;22),高通量基因测序显示胎儿染色体11q23.3q25和22q11.1q11.21区存在片段重复;家系分析显示胎儿的易位染色体为父源性.结论 胎儿的异常染色体衍生于其父亲携带的平衡易位,其11q23.3q25和22q11.1q11.21染色体片段重复是导致多发异常的主要原因.
Objective To explore the phenotype and pathogenesis of a fetus with a rare chromosomal abnormality.Methods The fetus was analyzed by clinical prenatal ultrasonography,G-banding karyotyping analysis and next generation sequencing(NGS).Results Prenatal ultrasonography of the fetus showed Dandy-Walker syndrome,growth restriction,and right-heart system dysplasia.The fetus had a chromosome karyotype of 47,XY,t(11;22)(q23.3;q11.2),+der(22)t(11;22).Duplication of 11q23.3q25 and 22q11.1q21 were also detected by NGS.The chromosome translocation carried by the fetus was derived from his father.Conclusion Duplications of chromosome 11q23.3q25 and 22q11.1q11.21 segments probably underlie the Dandy-Walker syndrome,growth restriction,and hypoplasia of the right heart system in the fetus.
作者
李付广
唐江
谢小雷
汤素环
吴爱娟
汤巧敏
谭卫荷
郭晓燕
Li Fuguang;Tang Jiang;Xie Xiaolei;Tang Suhuan;Wu Aijuan;Tang Qiaomin;Tan Weihe;Guo Xiaoyan(The Sixth Affiliated Hospital of Guangzhou Medical University,Qingyuan People’S Hospital,Qingyuan,Guangdong 511518,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2019年第6期632-635,共4页
Chinese Journal of Medical Genetics
