Prenatal prediction of duplication 10q24→qter by gene dosage of GOT1 on uncultured amniotic cells
- 1 October 1983
- journal article
- research article
- Published by Wiley in Prenatal Diagnosis
- Vol. 3 (4) , 337-341
- https://doi.org/10.1002/pd.1970030410
Abstract
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.Keywords
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