11q23.3q25和22q11.1q11.21三体胎儿的产前诊断
[Prenatal diagnosis of a fetus with trisomies of 11q23.3q25 and 22q11.1q11.21].
作者信息
Li Fuguang, Tang Jiang, Xie Xiaojie, Tang Suhuan, Wu Aijian, Tang Qiaomin, Tan Weihe, Guo Xiaoyan
机构信息
The Sixth Affiliated Hospital of Guangzhou Medical University, Qingyuan People's Hospital, Qingyuan, Guangdong 511518, China. Email:
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Jun 10;36(6):632-635. doi: 10.3760/cma.j.issn.1003-9406.2019.06.026.
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 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 chromosomal 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 chromosomal 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.
目的
探讨一例患有罕见染色体异常胎儿的表型及发病机制。
方法
通过临床产前超声检查、G显带核型分析及二代测序（NGS）对该胎儿进行分析。
结果
胎儿产前超声检查显示丹迪-沃克综合征、生长受限及右心系统发育不良。胎儿染色体核型为47,XY,t(11;22)(q23.3;q11.2),+der(22)t(11;22)。NGS检测还发现11q23.3q25和22q11.1q21重复。胎儿携带的染色体易位源自其父亲。
结论
11q23.3q25和22q11.1q11.21片段的重复可能是导致该胎儿丹迪-沃克综合征、生长受限及右心系统发育不全的原因。
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