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The genetic significance of accessory bisatellited marker chromosomes

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Summary

Ten new cases of accessory bisatellited marker chromosomes examined in different laboratories are reported. As a basis for genetic counselling in the context of prenatal diagnosis a cytogenetic categorization of such marker chromosomes is proposed and an estimation of the genetic risk associated with each category is carried out. The results are as follows:

  1. 1.

    There is no increased risk for offspring with abnormal phenotype born to a healthy carrier of an accessory bisatellited marker chromosome with either a single or two closely adjacent C-bands (Category AI or AII).

  2. 2.

    The unbiased sample of cases with de novo accessory bisatellited marker chromosomes of categories AI and AII is too small to allow a satisfactory estimation of the actual risk that, in case of such a prenatal finding, the foetus may not show a normal phenotype as a consequence of the marker chromosome. There is, however, evidence that this risk may be lower than 10%.

  3. 3.

    Accessory bisatellited marker chromosomes showing a discrete pattern of G- or R-bands situated between two distant C-bands (Category AIII) usually indicate a chromosomal imbalance giving rise to an abnormal phenotype. Mosaic carriers of such dicentric marker chromosomes may, however, present a normal phenotype.

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Authors and Affiliations

  1. Abteilung Klinische Genetik der Universität, Prittwitzstrasse 6, D-7900, Ulm

    P. Steinbach, M. Djalali & M. Wolf

  2. Institut für Humangenetik der Universität, D-3400, Göttingen

    I. Hansmann & H. -D. Probeck

  3. Institut für Humangenetik im Universitätsklinikum, D-4300, Essen

    E. Kattner & A. Schmidt

  4. Institut für Anthropologie und Humangenetik der Universität, D-8520, Erlangen, Germany

    M. Meisel-Stosiek

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  1. P. Steinbach
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  2. M. Djalali
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  3. I. Hansmann
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  4. E. Kattner
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  5. M. Meisel-Stosiek
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  7. A. Schmidt
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  8. M. Wolf
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Steinbach, P., Djalali, M., Hansmann, I. et al. The genetic significance of accessory bisatellited marker chromosomes. Hum Genet 65, 155–164 (1983). https://doi.org/10.1007/BF00286654

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  • DOI: https://doi.org/10.1007/BF00286654

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