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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

Summary

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.

Keywords

Internal Medicine Metabolic Disease Fibroblast Cell Strong Indication Chromosomal Rearrangement 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. Cerimele D, Cottoni F, Scappaticci S, Rabbiosi G, Borroni G, Sanna E, Zei G, Fraccaro M (1982) High prevalence of Werner's syndrome in Sardinia. Description of six patients and estimates of the gene frequency. Hum Genet 62:25–30Google Scholar
  2. Comfort A (1961) Werner's syndrome. Lancet ii: 1152Google Scholar
  3. Darlington GJ, Dutkowski R, Brown T (1981) Sister chromatid exchange frequencies in progeria and Werner syndrome patients. Am J Hum Genet 33:762–766Google Scholar
  4. Fitzgerald PH (1975) A mechanism of X chromosome aneuploidy in lymphocytes of aging women. Hum Genet 28:153–158Google Scholar
  5. Fraccaro M, Bott MG, Calvert HT (1962) Chromosomes in Werner's syndrome. Lancet i:536Google Scholar
  6. Galloway SM, Buckton KE (1978) Aneuploidy and ageing: chromosome studies on a random sample of the population using G-banding. Cytogenet Cell Genet 20:78–95Google Scholar
  7. Hoehn H, Bryant EM, Au K, Norwood TH, Boman H, Martin GM (1975) Variegated translocation mosaicism in human skin fibroblast cultures. Cytogenet Cell Genet 15:282–298Google Scholar
  8. Learner N, Day HJ, Weiss L, Di George A (1962) Chromosomes in Werner's syndrome. Lancet i:537Google Scholar
  9. Motulsky AG, Schultz A, Priest J (1962) Werner's syndrome: chromosomes, genes and the ageing process. Lancet i:160Google Scholar
  10. Nordenson I (1977) Chromosome breaks in Werner's syndrome and their prevention in vitro by radical-scavenging enzymes. Hereditas 87:151–154Google Scholar
  11. Norwood TH, Hoehn H, Salk D, Martin GM (1979) Cellular aging in Werner's syndrome: a unique phenotype? J Invest Dermatol 78: 92–96Google Scholar
  12. Salk D, Au K, Hoehn H, Martin GM (1981 a) Cytogenetics of Werner's syndrome cultured skin fibroblasts: variegated translocation mosaicism. Cytogenet Cell Genet 30:92–107Google Scholar
  13. Salk D, Au K, Hoehn H, Stenchever MR, Martin GM (1981 b) Evidence of clonal expansion in mass cultures of aging Werner's syndrome skin fibroblasts. Cytogenet Cell Genet 30:108–117Google Scholar

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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