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Clastogen-induced fragility may differentiate pancytopenia of congenital dyskeratosis from fanconi anaemia

  • Hematology and Oncology
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Abstract

A male infant is reported with congenital dyskeratosis and pancytopenia Zinsser-Engman-Cole. The bone marrow pathology showed similarities to Fanconi anaemia. Ophthalmological complications were vitreous haemorrhage, haemorrhagic cataracta complicata and glaucoma. Spontaneous and diepoxybutane-induced chromosomal fragility was within the range of normal cells but was elevated through induction with 4-nitroquinolineoxide. These findings are contrasted with those of Fanconi anaemia.

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Abbreviations

DEB:

diepoxybutane

MCH:

mean corpuscular haemoglobin

MCV:

mean corpuscular volume

NQO:

4-nitroquinoline-1-oxide

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Authors and Affiliations

  1. Abteilung für Kinderheilkunde der Universität Erlangen-Nürnberg, D-8520, Erlangen, Federal Republic of Germany

    A. Schneider, D. Harms, J. Gromball, U. Glöckel & J. D. Beck

  2. Abteilung für Augenheilkunde der Universität Erlangen-Nürnberg, D-8520, Erlangen, Federal Republic of Germany

    U. Mayer

  3. Institut für Humangenetik der Universität Erlangen-Nürnberg, D-8520, Erlangen, Federal Republic of Germany

    E. Gebhart

Authors
  1. A. Schneider
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  2. U. Mayer
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  3. E. Gebhart
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  4. D. Harms
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  5. J. Gromball
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  6. U. Glöckel
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  7. J. D. Beck
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Schneider, A., Mayer, U., Gebhart, E. et al. Clastogen-induced fragility may differentiate pancytopenia of congenital dyskeratosis from fanconi anaemia. Eur J Pediatr 148, 37–39 (1988). https://doi.org/10.1007/BF00441811

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  • DOI: https://doi.org/10.1007/BF00441811

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