Skip to main content

Chromosomal Breakage in Response to Cross-linking Agents in the Diagnosis of Fanconi Anemia

  • Chapter
Fanconi Anemia

Abstract

The Fanconi anemia (FA) syndrome was originally described by Guido Fanconi in 1927. In his report he described three brothers with a condition resembling pernicious anemia. Evidently the anemia was the main symptom of the disease. Subsequently, other clinical symptoms (e.g., thumb aplasia and other skeletal abnormalities, café au lait spots, and growth retardation) frequently observed in FA have been described (Nilsson 1960; Fanconi 1967).

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 84.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 109.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  • Auerbach AD, Wolman SR (1976) Susceptibility of Fanconi’s anaemia fibroblasts to chromosome damage by carcinogens. Nature 261: 494–496

    Article  PubMed  CAS  Google Scholar 

  • Auerbach AD, Adler B, Chaganti RSK (1981) Prenatal and postnatal diagnosis and carrier detection of Fanconi’s anaemia by a cytogenetic method. Pediatrics 67: 128–135

    PubMed  CAS  Google Scholar 

  • Berger R, Bernheim A, Le Coniat M, Vecchione D, Schaison G (1980) Nitrogen mustard-induced chromosome breakage: a tool for Fanconi’s anemia diagnosis. Cancer Genet Cytogenet 2: 269–274

    Article  Google Scholar 

  • Cohen MM, Simpson SJ (1983) Increased clastogenicity and decreased inhibition of DNA synthesis by neocarzinostatin and tallysomyein in ataxia telangiectasia lymphoid cells. Mutat Res 112: 119–128

    PubMed  CAS  Google Scholar 

  • Cohen MM, Simpson SJ, Hongi GR, Maurer HS, Nicklas JW, Martin AO (1982) The identification of Fanconi anemia genotypes by clastogenic stress. Am J Hum Genet 34: 794–810

    PubMed  CAS  Google Scholar 

  • Fanconi G (1927) Familiäre infantile perniziosaartige Anämie (perniziöses Blutbild und Konstitution). Jahrb Kinderheilkd 117: 257–280

    Google Scholar 

  • Fanconi G (1967) Familial constitutional panmyelopathy, Fanconi’s anemia (FA). Semin Hematol 4: 233–240

    PubMed  CAS  Google Scholar 

  • Fujiwara Y, Tatsumi M, Sasaki MS (1977) Cross link repair in human cells and its possible defect in Fanconi’s anemia cells. J Mol Biol 113: 635–649

    Article  PubMed  CAS  Google Scholar 

  • German J, Caskie S, Schonberg S (1978) A simple cytogenetic test for increased mutagen-sensitivity. J Supramol Struct (Suppl) 2: 89

    Google Scholar 

  • Hartley-Asp B (1978) The influence of caffeine on the mitomycin C-induced chromosome aberration frequency in normal human and xeroderma pigmentosum cells. Mutat Res 49: 117–126

    Article  PubMed  CAS  Google Scholar 

  • Ishida R, Buchwald M (1982) Susceptibility of Fanconi’s anemia lymphoblasts to DNA crosslinking and alkylating agents. Cancer Res 42: 4000–4006

    PubMed  CAS  Google Scholar 

  • Joenje H, Arwert F, Eriksson AW, De Koning H, Oostra AB (1981) Oxygen-dependence of chromosomal aberrations in Fanconi’s anaemia. Nature 290: 142–143

    Article  PubMed  CAS  Google Scholar 

  • Kwee ML, Poll EHA, Van de Kamp JJP, De Koning H, Eriksson AW, Joenje H (1983) Unusual response to bifunctional alkylating agents in a case of Fanconi anaemia. Hum Genet 64: 384–387

    CAS  Google Scholar 

  • Latt SA, Stetten G, Juergens LA, Buchanan GR, Gerald PS (1975) Induction by alkylating agents of sister chromatid exchanges and chromatid breaks in Fanconi’s anemia. Proc Natl Acad Sci USA 72: 4066–4070

    Article  PubMed  CAS  Google Scholar 

  • Maraschio P, Peretti D, Lambiase S, Lo Curto F, Caufln D, Gargantini L, Minoli L, Zuffardi O (1986) A new chromosome instability disorder. Clin Genet 30: 353–365

    Article  PubMed  CAS  Google Scholar 

  • Mcintosh S, Breg WR, Lubiniecki AS (1979) Fanconi’s anemia. The preanemic phase. Am J Pediatr Hematol Oncol 1: 107

    PubMed  CAS  Google Scholar 

  • Moorhead PS, Nowell PW, Mellman WJ, Batips DM, Hungerford DA (1960) Chromosome preparations of leukocytes cultured from peripheral blood. Exp Cell Res 20: 613–617

    Article  PubMed  CAS  Google Scholar 

  • Nilsson LR (1960) Chronic pancytopenia with multiple congenital abnormalities (Fanconi’s anemia). Acta Paediatr 49: 518–529

    Article  PubMed  CAS  Google Scholar 

  • Novotnä B, Goetz P, Surkova NI (1979) Effects of alkylating agents on lymphocytes from controls and from patients with Fanconi’s anemia. Hum Genet 49: 41–50

    PubMed  Google Scholar 

  • Poll EHA, Arwert F, Joenje H, Eriksson AW (1982) Cytogenetic toxicity of antitumor platinum compounds in Fanconi’s anemia. Hum Genet 61: 228–230

    Article  PubMed  CAS  Google Scholar 

  • Poll EHA, Arwert F, Kortbeek HT, Eriksson AW (1984) Fanconi anaemia cells are not uniformly deficient in unhooking of DNA interstrand crosslinks, induced by mitomycin C or 8-methoxy-psoralen plus UVA. Hum Genet 68: 228–234

    Article  PubMed  CAS  Google Scholar 

  • Sasaki MS (1978) Fanconi’s anemia condition possibly associated with a defective DNA repair. In: Hanawalt PC, Friedberg EC, Cox CF (eds) DNA repair mechanisms. ICN-UCLA symposia on molecular and cellular biology, vol IX. Academic Press, New York San Francisco London, pp 675

    Google Scholar 

  • Sasaki MS, Tonomura A (1973) A high susceptibility of Fanconi’s anemia to chromosome breakage by DNA-crosslinking agents. Cancer Res 33: 1829–1836

    PubMed  CAS  Google Scholar 

  • Schroeder TM, AnschĂĽtz F, Knopp A (1964) Spontane Chromosomenaberrationen bei familiärer Panmyelopathie. Humangenetik 1: 194–196

    Article  PubMed  CAS  Google Scholar 

  • Schroeder TM, Drings P, Beilner P, Buchinger G (1976) Clinical and cytogenetic observations during a six-year period in an adult with Fanconi’s anaemia. Blut 34: 119–132

    Article  Google Scholar 

  • Taylor AMR, Rosney CM, Campbell JB (1979) Unusual sensitivity of ataxia telangiectasia cells to bleomycin. Cancer Res 39: 1046–1050

    PubMed  CAS  Google Scholar 

Download references

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 1989 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Arwert, F., Kwee, M.L. (1989). Chromosomal Breakage in Response to Cross-linking Agents in the Diagnosis of Fanconi Anemia. In: Schroeder-Kurth, T.M., Auerbach, A.D., Obe, G. (eds) Fanconi Anemia. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-74179-1_7

Download citation

  • DOI: https://doi.org/10.1007/978-3-642-74179-1_7

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-74181-4

  • Online ISBN: 978-3-642-74179-1

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics