The description of chromoanagenesis phenomena is relatively recent in cytogenetics, and the transcriptionTranscription of this type of complex rearrangement using cytogenetic nomenclature is usually complex. An abbreviation dedicated to chromothripsis, the first described of these new types of complex rearrangement, only appeared in the International System for Human Cytogenomic Nomenclature (ISCN) in 2013. This chapter aims to summarize the way(s) of reporting complex chromosome rearrangements grouped under the name of chromoanagenesis (i.e., chromothripsis, chromoanasynthesis, or chromoplexy) in the ISCN nomenclature.

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ISCN and Chromoanagenesis

  • Martine Doco-Fenzy,
  • Jean-Michel Dupont,
  • Caroline Schluth-Bolard

摘要

The description of chromoanagenesis phenomena is relatively recent in cytogenetics, and the transcriptionTranscription of this type of complex rearrangement using cytogenetic nomenclature is usually complex. An abbreviation dedicated to chromothripsis, the first described of these new types of complex rearrangement, only appeared in the International System for Human Cytogenomic Nomenclature (ISCN) in 2013. This chapter aims to summarize the way(s) of reporting complex chromosome rearrangements grouped under the name of chromoanagenesis (i.e., chromothripsis, chromoanasynthesis, or chromoplexy) in the ISCN nomenclature.