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Bloom's syndrome and Fanconi's anemia: Demonstration of two distinctive patterns of chromosome disruption and rearrangement

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Summary

A comparison of the patterns of chromosome breakage and rearrangements was made using lymphocytes from one patient with Bloom's syndrome and one with Fanconi's anemia. Chromatid and isochromatid gaps and breaks were increased in frequency in both conditions. In Fanconi's anemia, more aberrations per aberrant cell occurred than in Bloom's syndrome. The relative numbers of the various classes of interchanges and the chromosome regions affected differed strikingly. In Bloom's syndrome, homologous chromosomes had formed most of the interchanges, while in Fanconi's anemia non-homologous chromosomes were preferentially involved in the interchanges. The patterns formed by brakage, including breaks involved in interchanges, show a non-random distribution of the lesions in both conditions.

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References

  1. German, J.: Cytological evidence for crossingover in vitro in human lymphoid cells. Science 144, 298–301 (1964)

    Article  CAS  Google Scholar 

  2. German, J., Archibald, R., Bloom, D.: Chromosomal breakage in a rare and probably genetically determined syndrome of man. Science 148, 506–507 (1965)

    Article  CAS  Google Scholar 

  3. German, J.: Bloom's syndrome. II. The prototype of human genetic disorders predisposing to chromosome instability and cancer. In: Chromosomes and Cancer (ed. J. German), pp. 601–617. New York: John Wiley and Sons 1974

    Google Scholar 

  4. German, J., Crippa, L. P.: Chromosomal breakage in dipoloid cell lines from Bloom's syndrome and Fanconi's anemia. Ann. Génét. 9, 143–154 (1966)

    Google Scholar 

  5. German, J.: Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients. Amer. J. human Genet. 21, 196–227 (1969)

    CAS  Google Scholar 

  6. German, J.: Genes which increase chromosomal instability in somatic cells and predispose to cancer. Progress in Medical Genetics (eds. A. G. Steinberg, A. G. Bearn), pp. 61–101. New York: Grune and Stratton 1972

    Google Scholar 

  7. German, J., Crippa, L. P., Bloom, D.: Bloom's syndrome. III. Analysis of the chromosome aberration characteristic of this disorder. Chromosoma 48, 1–6 (1974)

    Article  Google Scholar 

  8. Koskull, H. von, Aula, P.: Nonrandom distribution of chromosome breaks in Fanconi's anemia. Cytogenet. Cell Genet. 12, 423–434 (1973)

    Article  Google Scholar 

  9. Schroeder, T. M., Anschütz, F., Knopp, A.: Spontane Chromosomenaberrationen bei familiärer Panmyelopathie. Humangenetik 1, 194–196 (1964)

    CAS  PubMed  Google Scholar 

  10. Schroeder, T. M.: Cytogenetische und cytologische Befunde bei enzymopenischen Panmyelopathien und Pancytopenien. Humangenetik 2, 287–316 (1966)

    CAS  PubMed  Google Scholar 

  11. Schroeder, T. M., Kurth, R.: Spontaneous chromosomal breakage and high incidence of leukemia in inherited disease. Blood 87, 96–112 (1971)

    Google Scholar 

  12. Schroeder, T. M., German, J.: A comperative study of the patterns of chromosomal instability in Fanconi's anemia and Bloom's syndrome. Excerpta Medical Intern. Congress Series 233, 161, 1971

    Google Scholar 

  13. Schroeder, T. M.: Genetische Faktoren der Krebsentstehung. Fortschr. Med. 16, 603–608 (1972)

    Google Scholar 

  14. Schroeder, T. M., German, J.: Lokalisation spontaner Chromosomenbrüche bei Fanconi Anämie und Bloom's Syndrom. Represented at III. Tagung der Sektion Cytogenetik der Gesellschaft für Anthropologie und Humangenetik, Münster/Westf., 27. 9. 1972

  15. Schroeder, T. M., Passarge, E.: Spontaneous chromsomal instability. Humangenetik 17, 276 (1973)

    CAS  PubMed  Google Scholar 

  16. Schroeder, T. M.: Die spontane Chromosomeninstabilität bei den seltenen Erbkrankheiten: Fanconi-Anämie und Bloom-Syndrom. Dtsch. med. Wschr. 98, 2213–2215 (1973)

    Article  CAS  Google Scholar 

  17. Schroeder, T. M., Drings, P.: Verlaufsbeobachtung einer Fanconi Anämie bei einem Erwachsenen. Verh. dtsch. Ges. inn. Med. 29, 477–481 (1973)

    Google Scholar 

  18. Schroeder, T. M.: Relationship between chromosomal instability and leukemia in “Modern trends in human leukemia”. Hämatologie und Bluttransfusion. Sonderband zu “Blut” 14, 94–96 (1974)

    CAS  Google Scholar 

  19. Schroeder, T. M.: Influence of temperature and duration of incubation on the types of chromosomal aberrations in Fanconi's anemia. Genetics 74, 244 (1973)

    Google Scholar 

  20. Vogel, F., Schroeder, T. M.: The internal order of the interphase nucleus, II. Humangenetik 25, 265–297 (1974)

    Article  CAS  Google Scholar 

  21. A nine-year old boy, identified as 32 (mi. Ko.) in reference [6].

  22. A two-year old boy, studied here through the generous cooperation of Drs. Dorothy Warburton and J. A. Wolf.

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Supported by the Deutsche Forschungsgemeinschaft and by research grants from the National Institutes of Health (Nos. HD 04134 und HL 09011) and the American Cancer Society, Inc.

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Schroeder, T.M., German, J. Bloom's syndrome and Fanconi's anemia: Demonstration of two distinctive patterns of chromosome disruption and rearrangement. Humangenetik 25, 299–306 (1974). https://doi.org/10.1007/BF00336905

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  • DOI: https://doi.org/10.1007/BF00336905

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