doi: 10.1126/science.164.3885.1303.
Lesch-Nyhan mutation: prenatal detection with amniotic fluid cells
- PMID: 4890364
- DOI: 10.1126/science.164.3885.1303
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Lesch-Nyhan mutation: prenatal detection with amniotic fluid cells
Science.
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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.
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