Lesch-Nyhan Mutation: Prenatal Detection with Amniotic Fluid Cells

Science  13 Jun 1969:
Vol. 164, Issue 3885, pp. 1303-1305
DOI: 10.1126/science.164.3885.1303


Cells cultured from the amniotic fluid of a 22-week fetus in a heterozygote for the X-linked Lesch-Nyhan mutation, which results in neurological and developmental disorders, lacked sex chromatin and were unable to incorporate hypoxanthine. The diagnosis of a mutant male was confirmed upon birth of enzyme-deficient, hyperuricemic twin boys whose amniotic membrane cells failed to incorporate hypoxanthine.