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New Sight on Assessment of Clinical Value of Human Supernumerary Marker Chromosomes

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Abstract

Despite the rapid development of new methods of molecular and molecular cytogenetic diagnostics, the small supernumerary marker chromosomes (sSMCs), described for the first time in 1961, are still one of the most difficult cases in the diagnosis of human chromosomal pathologies. In this article, new approaches, methods of analysis and description of sSMC, as well as the existing problems of assessing their possible clinical significance are considered. There are the prospects of improving and developing new methods and approaches to solving problems in the field of molecular cytogenetic diagnosis of human chromosomal pathologies analyzed.

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Funding

The present study was supported by the Russian Foundation for Basic Research (project no. 19-015-00084a) and by state contract (0324-2019-0042, no. of registration: АААА-А17-117071240065-4).

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Authors and Affiliations

  1. Federal Research Center Institute of Cytology and Genetics, Siberian Branch, Russian Academy of Sciences, 630090, Novosibirsk, Russia

    T. V. Karamysheva, E. G. Zakirova & N. B. Rubtsov

  2. Institute of Chemical Biology and Fundamental Medicine, Siberian Branch, Russian Academy of Sciences, 630090, Novosibirsk, Russia

    T. A. Gayner

  3. Center for Personalized Medicine, Ltd, 630090, Novosibirsk, Russia

    T. A. Gayner

  4. Novosibirsk State University, 630090, Novosibirsk, Russia

    N. B. Rubtsov

Authors
  1. T. V. Karamysheva
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  2. T. A. Gayner
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  3. E. G. Zakirova
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  4. N. B. Rubtsov
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Correspondence to N. B. Rubtsov.

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The authors declare that they have no conflict of interest. This article does not contain any studies involving animals or human participants performed by any of the authors.

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Translated by A. Kazantseva

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Karamysheva, T.V., Gayner, T.A., Zakirova, E.G. et al. New Sight on Assessment of Clinical Value of Human Supernumerary Marker Chromosomes. Russ J Genet 56, 530–539 (2020). https://doi.org/10.1134/S1022795420040031

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  • DOI: https://doi.org/10.1134/S1022795420040031

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