Potential Role of Chromothripsis in the Genesis of Complex Chromosomal Rearrangements in Human Gametes and Preimplantation Embryo

  • Franck Pellestor
  • Vincent Gatinois
Part of the Methods in Molecular Biology book series (MIMB, volume 1769)


The discovery of a new class of massive chromosomal rearrangement, baptized chromothripsis, in different cancers and congenital disorders has deeply modified our understanding on the genesis of complex genomic rearrangements. Several mechanisms, involving abortive apoptosis, telomere erosion, mitotic errors, micronuclei formation, and p53 inactivation, might cause chromothripsis. The remarkable point is that all these plausible mechanisms have been identified in the field of human reproduction as causal factors for reproductive failures and chromosomal abnormality genesis. Specific features of gametogenesis and early embryonic development may contribute to the emergence of chromothripsis. Multiple lines of evidence support the assumption that chromothripsis may arise more frequently than previously thought in both gametogenesis and early human embryogenesis.

Key words

Chromothripsis Massive chromosomal rearrangement Spermatogenesis Oogenesis Fertilization Embryo 



Work in the unit of Chromosomal Genetics is supported by the CHU research platform ChromoStem (


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© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Unit of Chromosomal Genetics, Department of Medical GeneticsArnaud de Villeneuve Hospital, Montpellier CHRUMontpellierFrance
  2. 2.INSERM U1183 Unit “Genome and Stem Cell Plasticity in Development and Ageing”Institute for Regenerative Medicine and Biotherapy, St Eloi HospitalMontpellierFrance

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