Prenatal diagnosis of a fetus with Miller-Dieker syndrome.
10.3760/cma.j.cn511374-20190902-00443
- VernacularTitle:产前诊断Miller-Dieker综合征胎儿一例
- Author:
Hexuan ZHANG
1
;
Xue YANG
;
Xianying TANG
;
Guangping LI
;
Daili TANG
;
Zhi HUANG
Author Information
1. Department of Birth Health and Genetics, Guiyang Hospital for Women and Children's Health Care, Guizhou Provincial Center for Prenatal Diagnosis, Guiyang, Guizhou 550001, China. hihihisong@163.com.
- Publication Type:Journal Article
- MeSH:
Chromosome Banding;
Chromosome Deletion;
Chromosomes, Human, Pair 17;
Classical Lissencephalies and Subcortical Band Heterotopias/genetics*;
Female;
Fetus;
Humans;
Karyotyping;
Pregnancy;
Prenatal Diagnosis
- From:
Chinese Journal of Medical Genetics
2020;37(11):1280-1282
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To carry out genetic diagnosis for a fetus.
METHODS:Chromosome G-banding and chromosomal microarray analysis (CMA) were carried out for a fetus with abnormal morphology of lateral cerebral fissure.
RESULTS:The karyotype of the fetus was normal, but CMA showed that it has carried a 1.4 Mb deletion at 17p13.3 region, which suggested a diagnosis of Miller-Dieker syndrome (MDS).
CONCLUSION:Familiarity with clinical features and proper selection of genetic testing method are crucial for the diagnosis of MDS. Attention should be paid to microdeletions and microduplications which can be missed by conventional chromosomal karyotyping.
