title: Prenatal diagnosis of Cockayne's syndrome.
abstract: Cockayne's syndrome (CS) was diagnosed prenatally by examination of amniotic cells cultured in vitro. RNA synthesis after irradiation with ultraviolet light was abnormal in cells from a fetus with CS but not in cells from a fetus which was normal. The procedure is simple and rapid and the outcome of the test in two cases (one positive, one negative) was unambiguous.
authors.forename: A R
authors.initials: AR
authors.lastname: Lehmann
authors.forename: A J
authors.initials: AJ
authors.lastname: Francis
authors.forename: F
authors.initials: F
authors.lastname: Giannelli
mesh_terms: D000653:Amniotic Fluid / Q000166:cytology; D001345:Autoradiography; D002478:Cells, Cultured; D003057:Cockayne Syndrome / Q000175:diagnosis*; D004392:Dwarfism / Q000175:diagnosis*; D005260:Female; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012313:RNA / Q000096:biosynthesis / Q000528:radiation effects; D012588:Scintillation Counting; D014466:Ultraviolet Rays
chemical_list: D012313:RNA