Glutamic-oxaloacetic transaminase (GOT1) gene dosage studies were performed on uncultured amniotic cells from a fetus at risk for duplication/deficiency of 10q24 → qter, due to maternal translocation t(9;10)(p24;q24). Previous investigations in the same pedigree had shown triplex dosage effect of GOT1 on red blood cells of a 10q24 → qter trisomic fetus monitored by midtrimester amniocentesis. In the present pregnancy, the GOT1 activity of amniotic cells exhibited a triplex gene dosage, suggesting duplication of region 10q24 → qter in the fetus. The biochemical prediction was confirmed two weeks later by cytogenetic analysis.
|Number of pages||5|
|Publication status||Published - 1983|
ASJC Scopus subject areas
- Obstetrics and Gynaecology