title: Norrie's disease in a French-Canadian kindred: attempt to detect carriers by DNA analysis.
abstract: In a French-Canadian kindred four male cousins are affected with Norrie's disease, a rare X-linked recessive disorder. Three have university education, and the fourth has some developmental delay. Only one is microcephalic. All have mild to severe hearing deficit, although only three were aware of their hearing loss. Linkage analysis of DNA from family members with the probe L1.28 failed to detect female carriers.
mesh_terms: D000328:Adult; D001766:Blindness / Q000151:congenital* / Q000235:genetics; D004247:DNA / Q000032:analysis*; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D006579:Heterozygote; D006801:Humans; D014960:X Chromosome
chemical_list: D004247:DNA