Lesch-Nyhan syndrome: preventive control by prenatal diagnosis.
The Lesch-Nyhan syndrome was detected in a fetus at a time sufficiently early to allow termination of the pregnancy. The feasibility of a preventive program for control of a severe sex-linked neurological disease through prenatal diagnosis is thus demonstrated.
D000225:Adenine / Q000378:metabolism; D000653:Amniotic Fluid / Q000166:cytology; D001264:Athetosis / Q000235:genetics; D001345:Autoradiography; D001479:Basal Ganglia / Q000201:enzymology; D002247:Carbon Isotopes; D002531:Cerebellum / Q000201:enzymology; D002540:Cerebral Cortex / Q000201:enzymology; D002819:Chorea / Q000235:genetics; D003192:Compulsive Behavior; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D007042:Hypoxanthines / Q000378:metabolism; D066298:In Vitro Techniques; D008607:Intellectual Disability; D008297:Male; D011247:Pregnancy; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis* / Q000517:prevention & control*; D012652:Self Mutilation; D012730:Sex Chromosomes; D012867:Skin / Q000201:enzymology; D013737:Testis / Q000201:enzymology; D014166:Transferases / Q000097:blood; D014316:Tritium; D014527:Uric Acid / Q000097:blood / Q000652:urine
D002247:Carbon Isotopes; D007042:Hypoxanthines; D014316:Tritium; D014527:Uric Acid; D014166:Transferases; D000225:Adenine