[米勒-迪克尔综合征胎儿的产前诊断与基因分析]
[Prenatal diagnosis and genetic analysis of a fetus with Miller-Dieker syndrome].
作者信息
Duan Fuhua, Kong Xiangdong
机构信息
Center of Genetic and Prenatal Diagnosis, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Jan 10;38(1):71-73. doi: 10.3760/cma.j.cn511374-20200118-00039.
OBJECTIVE
To explore the genetic basis for a fetus with lissencephaly.
METHODS
Genomic DNA was extracted from amniotic fluid sample and subjected to copy number variation (CNV) analysis.
RESULTS
The fetus was found to harbor a heterozygous 5.2 Mb deletion at 17p13.3p13.2, which encompassed the whole critical region of Miller-Dieker syndrome (MDS) (chr17: 1-2 588 909).
CONCLUSION
The fetus was diagnosed with MDS. Deletion of the PAFAH1B1 gene may account for the lissencephaly found in the fetus.
目的
探讨无脑回胎儿的遗传基础。
方法
从羊水样本中提取基因组DNA，并进行拷贝数变异（CNV）分析。
结果
发现该胎儿在17p13.3p13.2处存在杂合性5.2 Mb缺失，该缺失区域包含米勒-迪克尔综合征（MDS）的整个关键区域（chr17: 1-2 588 909）。
结论
该胎儿被诊断为MDS。PAFAH1B1基因的缺失可能是导致胎儿无脑回的原因。
Zotero 插件