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Irregular phenotypic expression of ring chromosomes

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Summary

2 patients with 13- and C9-rings are reported. On reviewing the phenotypical features of the published ring carriers and comparing them with our results we do not find any characteristic similarities. This can be explained by cytogenetical and biological findings. We are therefore inclined to reject the existence of clear-cut ring chromosome syndromes.

Zusammenfassung

Im folgenden wird über 2 Patienten mit Ringchromosomen berichtet. Der eine hat einen D13-, der andere einen C9-Ring. Ihre Phänotypen werden mit den charakteristischen Merkmalen der bereits publizierten Ringchromosomenträger verglichen, wobei deutlich wird, daß zwischen ihnen keine Ähnlichkeiten bestehen, die für die jeweilige Anomalie typisch wären. Da sich diese Tatsache aus cytogenetischen und biologischen Beobachtungen hinreichend erklären läßt, neigen wir zur Ansicht, daß es keine eigentlichen Ringchromosomen-syndrome gibt.

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Authors and Affiliations

  1. Ludwig Boltzmann-Institut zur Erforschung kindlicher Hirnschäden, Wien

    Rosina Zdansky, Milly Andrle & A. Rett

  2. Genetisches Institut des Basler Kinderspitals, Basel, Switzerland

    Erika Bühler & T. Tsuchimoto

  3. Institut für Blutgruppenserologie der Universität, Wien

    W. R. Mayr

Authors
  1. Rosina Zdansky
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  2. Milly Andrle
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  3. Erika Bühler
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  4. T. Tsuchimoto
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  5. W. R. Mayr
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  6. A. Rett
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Zdansky, R., Andrle, M., Bühler, E. et al. Irregular phenotypic expression of ring chromosomes. Hum Genet 26, 193–198 (1975). https://doi.org/10.1007/BF00281453

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  • DOI: https://doi.org/10.1007/BF00281453

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