Werner’s Syndrome and Human Aging

Volume 190 of the series Advances in Experimental Medicine and Biology pp 541-546

Cytogenetic Aspects of Werner Syndrome

  • Darrell SalkAffiliated withDepartment of Pathology, University of Washington
  • , Kam AuAffiliated withDepartment of Pathology, University of Washington
  • , Holger HoehnAffiliated withDepartment of Human Genetics, University of Wuerzburg
  • , George M. MartinAffiliated withDepartment of Pathology, University of Washington

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Cultured skin fibroblast-like (FL) cells from patients with Werner syndrome display frequent pseudodiploidy involving multiple, variable structural chromosome rearrangements that are clonal (Salk et al., 1981a). This cytogenetic abnormality, which has been called variegated translocation mosaicism (VTM), has also recently been observed in peripheral blood lymphocytes (Scappaticci et al., 1982). Werner syndrome may properly be classified as a chromosome instability syndrome because, like Bloom syndrome, ataxia telangiectasia, Fanconi anemia, and xeroderma pigmentosum, it is autosomal recessive, displays chromosome instability, and is associated with an increased incidence of neoplasia.