Classic X-linked spondyloepiphyseal dysplasia tarda in a woman with normal karyotype.
A case of classic X-linked SED tarda in a woman with normal karyotype is described. The clinical and radiological findings left no doubts about the diagnosis of classical SED tarda (X-linked). The most probable hypothesis for explaining the clinical manifestation of this pathology in a woman with normal karyotype is random inactivation of all X chromosomes with the normal allele in her cells.
D000328:Adult; D002871:Chromosome Banding; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007621:Karyotyping; D009085:Mucopolysaccharidosis IV / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D012730:Sex Chromosomes; D014960:X Chromosome