Prenatal prediction of duplication 10q24→qter by gene dosage of GOT1 on uncultured amniotic cells

B. Dallapiccola, G. Novelli, G. Micara, G. Ferranti, A. Pachi, M. Magnani

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)337-341
Number of pages5
JournalPrenatal Diagnosis
Volume3
Issue number4
Publication statusPublished - 1983

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynaecology

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