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Chromothripsis Detectable in Small Supernumerary Marker Chromosomes (sSMC) Using Fluorescence In Situ Hybridization (FISH)

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Chromothripsis

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

Abstract

The formation of small supernumerary marker chromosomes (sSMC) still remains enigmatic. However, it is suggested that majority of all kinds of de novo sSMC (inverted duplication-, ring-, and centric-minute-shaped ones) are products of incomplete trisomic rescue during early embryogenesis. Recent work, based on molecular cytogenetics, suggests that these trisomic rescue events are going together with chromothripsis, directed against the supernumerary chromosome to be degraded. Here we present a protocol how to characterize so-called discontinuous sSMC by means of fluorescence in situ hybridization (FISH).

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References

  1. Pellestor F (2014) Chromothripsis: how does such a catastrophic event impact human reproduction? Hum Reprod 29:388–393

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Authors and Affiliations

  1. Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Jena, Germany

    Thomas Liehr

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  1. Thomas Liehr
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Correspondence to Thomas Liehr .

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Editors and Affiliations

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

    Franck Pellestor

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Liehr, T. (2018). Chromothripsis Detectable in Small Supernumerary Marker Chromosomes (sSMC) Using Fluorescence In Situ Hybridization (FISH). 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_6

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  • DOI: https://doi.org/10.1007/978-1-4939-7780-2_6

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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

  • eBook Packages: Springer Protocols

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