Prenatal diagnosis and genetic analysis of a fetus with Miller-Dieker syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 Jan 10

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To explore the genetic basis for a fetus with lissencephaly. Genomic DNA was extracted from amniotic fluid sample and subjected to copy number variation (CNV) analysis. 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). The fetus was diagnosed with MDS. Deletion of the PAFAH1B1 gene may account for the lissencephaly found in the fetus.

Citation

Fuhua Duan, Xiangdong Kong. Prenatal diagnosis and genetic analysis of a fetus with Miller-Dieker syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 2021 Jan 10;38(1):71-73