Lesch-Nyhan Mutation: Prenatal Detection with Amniotic Fluid Cells
- 13 June 1969
- journal article
- other
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 164 (3885) , 1303-1305
- https://doi.org/10.1126/science.164.3885.1303
Abstract
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.Keywords
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