Cytogenetic Aspects of Werner Syndrome
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.
KeywordsFanconi Anemia Mass Culture Xeroderma Pigmentosum Ataxia Telangiectasia Werner Syndrome
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