Classic X-linked spondyloepiphyseal dysplasia tarda in a woman with normal karyotype
Monteiro de Pina Neto, J.; Bonfim, M.D.; Ferrari, I.
Progress in Clinical and Biological Research 104: 127-132
1982
ISSN/ISBN: 0361-7742 PMID: 6819575 Document Number: 192332
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.