Rapid prenatal diagnosis of the Lesch-Nyhan syndrome.
Autoradiographic demonstration of 3H-hypoxanthine incorporation in small numbers of amniotic fluid cells cultured on coverslips is a rapid and practical technique in the prenatal diagnosis of the Lesch-Nyhan mutation. An affected male fetus, a normal male fetus, and a heterozygous female fetus were identified within 14 days after amniocentesis in three pregancies at risk for the Lesch-Nyhan syndrome.
D000649:Amniocentesis; D000653:Amniotic Fluid / Q000166:cytology; D002478:Cells, Cultured; D005260:Female; D006801:Humans; D007042:Hypoxanthines / Q000378:metabolism; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis*; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis
D007042:Hypoxanthines