title: Particular interest of HLA typing for genetic counselling in families with congenital adrenal hyperplasia (21-OH deficiency).
abstract: The close genetic linkage between 21 hydroxylase deficiency and HLA loci considerably enlarges the possibilities of genetic counselling. Two 21-OH deficient complex families are reported, illustrating several aspects of this genetic counselling: detection of carriers, determination of the actual risk to related couples, suspicion of 21-OH deficiency by an HLA specificity association, and prenatal diagnosis.
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics* / Q000276:immunology; D000483:Alleles; D005260:Female; D005817:Genetic Counseling; D006680:HLA Antigens / Q000145:classification*; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D013250:Steroid Hydroxylases / Q000172:deficiency*
chemical_list: D006680:HLA Antigens; D013250:Steroid Hydroxylases