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Mitotic disturbance associated with mosaic aneuploidies

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Summary

The association of various unsystematic aneuploidies with premature centromere division (PCD) was observed in a patient with conspicuous clinical features and combined immunodeficiency. Trisomies and monosomies of almost all autosomes and gonosomal aberrations were found separately or in combination in a majority of the proband's lymphocytes and fibroblasts. The chromosome number varied from 44 to 50. A high proportion of the metaphases showed PCD or had the appearance of C-anaphases. These findings probably represent a new mutant affecting mitosis and causing mosaic aneuploidies.

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Miller, K., Müller, W., Winkler, L. et al. Mitotic disturbance associated with mosaic aneuploidies. Hum Genet 84, 361–364 (1990). https://doi.org/10.1007/BF00196235

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