Lesch-Nyhan mutation: prenatal detection with amniotic fluid cells.
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.
D000653:Amniotic Fluid / Q000166:cytology*; D001345:Autoradiography; D046508:Culture Techniques; D004200:Diseases in Twins / Q000175:diagnosis; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D005865:Gestational Age; D006801:Humans; D007042:Hypoxanthines / Q000378:metabolism; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000097:blood*; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics; D008858:Microscopy, Phase-Contrast; D009154:Mutation; D011247:Pregnancy; D012729:Sex Chromosome Aberrations / Q000175:diagnosis*; D014166:Transferases / Q000032:analysis; D014316:Tritium; D014527:Uric Acid / Q000097:blood
D007042:Hypoxanthines; D014316:Tritium; D014527:Uric Acid; D014166:Transferases