[Genetic analysis and prenatal diagnosis of a fetus with Xq25 microduplication].

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.