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Table 1 Characteristics of chromoanagenesis classes

From: Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

  Chromothripsis Chromoanasynthesis Chromoplexy
Mutational event Single Single or multiple Single or multiple
Chromosomes Few (1–4) Few (usually 1) Many (usually ≥ 4)
Breakpoints Many (≥5; sometimes > 25) Fewer (usually 5–25) Fewer (usually 5–25)
Breakpoint distribution Clustered Clustered Interspersed (usually in active chromatin)
Breakpoint signature Blunt ends Microhomology Blunt ends
Dosage alteration Cancer: often unbalanced (deletion bridges); Germline: mainly balanced (<5% of total rearrangement) Unbalanced (predominantly copy gain) Mainly balanced (occasional deletion bridges)
Proposed mechanism Micronucleus missegregation + chromosome pulverization + NHEJ Micronucleus missegregation + chromosome pulverization + MMBIR/FoSTeS Multiple DSBs during active transcription + NHEJ
Proposed parent-of-origin bias Paternal None None
Proposed transmission bias Maternal None None
Germline reports 43 10 6
Case:Control 39:4 10:0 6:0
References [9, 10, 17, 18, 23, 7678] [1921] [9, 22, 23]