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Clinical Consequences of Chromothripsis and Other Catastrophic Cellular Events

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Chromothripsis

Part of the book series: Methods in Molecular Biology ((MIMB,volume 1769))

Abstract

Chromothripsis was initially described as a novel cause of chromosomal rearrangements in cancer cells and was subsequently implicated in the development of gross chromosomal rearrangements in the germline. Other catastrophic cellular events such as chromoanasynthesis and chromoplexy have also been observed in human cells. Such events have been associated with various phenotypes including mental retardation and congenital malformations. Here, we introduce representative cases of human disorders arising from somatic or germline chromothripsis or similar catastrophic events. In this chapter, we use the term “chromoanagenesis” to indicate all catastrophic events including chromothripsis.

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Author information

Authors and Affiliations

  1. Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan

    Maki Fukami M.D., Ph.D.

  2. Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Aichi, Japan

    Hiroki Kurahashi M.D., Ph.D.

Authors
  1. Maki Fukami M.D., Ph.D.
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  2. Hiroki Kurahashi M.D., Ph.D.
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Corresponding authors

Correspondence to Maki Fukami M.D., Ph.D. or Hiroki Kurahashi M.D., Ph.D. .

Editor information

Editors and Affiliations

  1. Unit of Chromosomal Genetics, Department of Medical Genetics, CHU Montpellier, Montpellier, Hérault, France

    Franck Pellestor

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Fukami, M., Kurahashi, H. (2018). Clinical Consequences of Chromothripsis and Other Catastrophic Cellular Events. In: Pellestor, F. (eds) Chromothripsis. Methods in Molecular Biology, vol 1769. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4939-7780-2_2

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  • DOI: https://doi.org/10.1007/978-1-4939-7780-2_2

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  • Publisher Name: Humana Press, New York, NY

  • Print ISBN: 978-1-4939-7779-6

  • Online ISBN: 978-1-4939-7780-2

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