Prenatal diagnosis and genetic analysis of a fetus with Miller-Dieker syndrome.
10.3760/cma.j.cn511374-20200118-00039
- Author:
Fuhua DUAN
1
;
Xiangdong KONG
Author Information
1. Center of Genetic and Prenatal Diagnosis, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. kongxd@263.net.
- Publication Type:Journal Article
- MeSH:
1-Alkyl-2-acetylglycerophosphocholine Esterase/genetics*;
Chromosome Deletion;
Chromosomes, Human, Pair 17/genetics*;
Classical Lissencephalies and Subcortical Band Heterotopias/genetics*;
Female;
Fetus;
Genetic Testing;
Humans;
Microtubule-Associated Proteins/genetics*;
Pregnancy;
Prenatal Diagnosis
- From:
Chinese Journal of Medical Genetics
2021;38(1):71-73
- CountryChina
- Language:Chinese
-
Abstract:
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.
