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. 2025:2968:311-321.
doi: 10.1007/978-1-0716-4750-9_18.

ISCN and Chromoanagenesis

Martine Doco-Fenzy  1 , Jean-Michel Dupont  2 , Caroline Schluth-Bolard  3
Affiliations

ISCN and Chromoanagenesis

Martine Doco-Fenzy et al. Methods Mol Biol. 2025.

Abstract

The description of chromoanagenesis phenomena is relatively recent in cytogenetics, and the transcription 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.

Keywords: Chromoanasynthesis; Chromoplexy; Chromosome pulverization; Chromothripsis; Complex chromosomal rearrangement (CCR); ISCN.

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