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

  • Thomas Liehr
Part of the Methods in Molecular Biology book series (MIMB, volume 1769)


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).

Key words

Small supernumerary marker chromosomes (sSMC) Incomplete trisomic rescue Early embryogenesis Chromothripsis Molecular cytogenetics fluorescence in situ hybridization (FISH) 


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Copyright information

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

Authors and Affiliations

  1. 1.Institute of Human GeneticsJena University Hospital, Friedrich Schiller UniversityJenaGermany

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