Publications by authors named "Isabella E Moore"
Am J Med Genet A
March 2006
Article Synopsis
- Trisomy 6 is often linked to early miscarriages and can appear as mosaicism in amniotic fluid cultures, but a case of mosaic trisomy 6 was found in a 23-week pregnancy that ended due to fetal death.
- The post-mortem examination revealed a male fetus with serious defects, including an atrioventricular septal defect and exomphalos, indicating significant developmental issues.
- Cytogenetic testing showed a high percentage of trisomy 6 in fibroblast colonies from fetal skin and amnion, but molecular studies later revealed that the chromosome 6s came exclusively from the mother, suggesting maternal uniparental disomy (UPD) instead of true trisomy.
