Genetic analysis and prenatal diagnosis of a fetus with Xq25 microduplication.
10.3760/cma.j.cn511374-20200803-00579
- Author:
Xiangyi JING
1
;
Min PAN
;
Ru LI
;
Yongling ZHANG
;
Fucheng LI
;
Dongzhi LI
;
Can LIAO
Author Information
1. Prenatal Diagnostic Center, Guangzhou Women and Children' s Medical Centre, Guangzhou, Guangdong 510623, China. canliao6008@163.com.
- Publication Type:Journal Article
- MeSH:
Chromosome Banding;
Female;
Fetus;
Genetic Testing;
Humans;
Karyotyping;
Pregnancy;
Prenatal Diagnosis
- From:
Chinese Journal of Medical Genetics
2022;39(4):425-427
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a fetus with structural brain abnormalities.
METHODS:The karyotypes of the fetus and its parents were analyzed by conventional G-banding. Chromosome microarray analysis (CMA) was carried out to detect chromosomal microdeletion and microduplication.
RESULTS:No kartotypic abnormality was detected in the fetus and its parents. CMA has identified a 194 kb microduplication at Xq25 in the fetus, which encompassed exons 4-35 of the STAG2 gene and was derived from its mother.
CONCLUSION:The Xq25 duplication encompassing part of the STAG2 gene probably underlay the brain malformation in the fetus.
