Human Genetics

, Volume 62, Issue 1, pp 16–24 | Cite as

Clonal structural chromosomal rearrangements in primary fibroblast cultures and in lymphocytes of patients with Werner's syndrome

  • Susi Scappaticci
  • D. Cerimele
  • M. Fraccaro
Original Investigations


The cytogenetics of six cases of adult progeria (Werner's syndrome) from three Sardinian families were investigated. The overall increased incidence of chromosome breakage found in cultured lymphocytes and fibroblasts seems to be age-dependent. The occurrence of clonal variegated translocation mosaicism, previously found by other authors in fibroblast cell lines derived from Werner patients was demonstrated also in fibroblasts analyzed in situ on the outgrowth halos from primary skin explants; a strong indication that these aberrations are present in the in vivo precursors. The same type of clonal structural aberration was found for the first time also in 72h-cultured lymphocytes. These findings demonstrate that Werner's syndrome is indeed a further example of a chromosome rearrangement syndrome.


Internal Medicine Metabolic Disease Fibroblast Cell Strong Indication Chromosomal Rearrangement 
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Copyright information

© Springer-Verlag 1982

Authors and Affiliations

  • Susi Scappaticci
    • 1
  • D. Cerimele
    • 2
  • M. Fraccaro
    • 3
  1. 1.Cattedra di Biologia Generale, Facoltà di MedicinaUniversità di SassariItaly
  2. 2.Clinica DermatologiaUniversità di SassariItaly
  3. 3.Istituto di Biologia Generale e Genetica MedicaPaviaItaly

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