Genetic analysis and prenatal diagnosis of a fetus with Xq25 microduplication / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 425-427, 2022.
Article
in Zh
| WPRIM
| ID: wpr-928434
Responsible library:
WPRO
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.
Full text:
1
Index:
WPRIM
Main subject:
Prenatal Diagnosis
/
Genetic Testing
/
Chromosome Banding
/
Fetus
/
Karyotyping
Type of study:
Diagnostic_studies
Limits:
Female
/
Humans
/
Pregnancy
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2022
Type:
Article