Prenatal diagnosis of congenital adrenal hyperplasia.
The accurate prenatal diagnosis of 21-beta-hydroxylase deficiency, based on amniotic fluid levels of 17-hydroxyprogesterone, is documented for a fetus 14 1/2 weeks old. In addition, family HLA genotyping data are consistent with the purported linkage between the HLA locus and the locus for 21-beta-hydroxylase.
D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000235:genetics; D000328:Adult; D000653:Amniotic Fluid / Q000032:analysis; D002675:Child, Preschool; D002874:Chromosome Mapping; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D008040:Genetic Linkage; D006680:HLA Antigens / Q000235:genetics; D006650:Histocompatibility Testing; D006801:Humans; D006908:Hydroxyprogesterones / Q000032:analysis; D008297:Male; D006899:Mixed Function Oxygenases / Q000172:deficiency; D011247:Pregnancy; D011296:Prenatal Diagnosis
D006680:HLA Antigens; D006908:Hydroxyprogesterones; D006899:Mixed Function Oxygenases