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Quantitative studies on the arrangement of human metaphase chromosomes

VI. The association pattern of acrocentric chromosomes in patients with trisomy 13

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Summary

The association pattern was studied in 1182 mitoses of 21 patients with trisomy 13 and in a control group. In addition, 173 trisomic mitoses were compared with the same number of diploid mitoses in a case of mosaicism.

The number of mitoses with associations was no higher in the trisomic cells than in cells with normal karyotypes. Some differences were observed in the frequency of associations per cell and of the types of associations in the patient group and in the trisomic cells of the mosaic case. The number of associations in which more than two acrocentric chromosomes were involved was unexpectedly low in the cells with a supernumerary chromosome 13.

The result are interpreted as suggesting the existence of a compensatory mechanism activated by the additional acrocentric chromosome.

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Authors and Affiliations

  1. Institute of Human Genetics, University of Saarland, D-6650, Homburg/Saar, Federal Republic of Germany

    H. Zankl, D. Michaelsen & K. D. Zang

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  1. H. Zankl
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  2. D. Michaelsen
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  3. K. D. Zang
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Parts of this work are included in the doctoral (MD) thesis of DM

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Zankl, H., Michaelsen, D. & Zang, K.D. Quantitative studies on the arrangement of human metaphase chromosomes. Hum Genet 49, 185–189 (1979). https://doi.org/10.1007/BF00277641

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  • DOI: https://doi.org/10.1007/BF00277641

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