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Published on: August 17, 2022
[Genetic analysis and prenatal diagnosis of a fetus with Xq25 microduplication]
1Prenatal Diagnostic Center, Guangzhou Women and Children' s Medical Centre, Guangzhou, Guangdong 510623, China. canliao6008@163.com.
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.
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