title: Evidence for preferential X-chromosome inactivation in a family with Fabry disease.
abstract: Severe clinical signs of Fabry disease were observed in four of eight heterozygous daughters of a male patient. Activities of alpha-galactosidase A in serum, white blood cells, and hair roots of the manifesting carriers were markedly lower than 50% of normal. These findings are not easy to interpret in terms of random X inactivation alone; several alternative models including nonrandom (preferential) X inactivation are discussed.
mesh_terms: D001789:Blood Group Antigens; D003118:Color Perception; D000795:Fabry Disease / Q000201:enzymology / Q000235:genetics*; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005696:Galactosidases / Q000032:analysis / Q000172:deficiency; D008040:Genetic Linkage; D006197:Hair / Q000201:enzymology; D006579:Heterozygote; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D008954:Models, Biological; D010375:Pedigree; D012730:Sex Chromosomes
chemical_list: D001789:Blood Group Antigens; D005696:Galactosidases