Centromere Fissions, Complementary Isochromosomes, Telomeric Fusions, Balancing Supernumerary Chromosomes, Neocentromeres, Jumping Translocations, and Chromothripsis

RJ McKinlay Gardner, David J Amor

Oxford University Press | Published : 2018


This chapter reviews a number of very rare chromosomal rearrangements: centromere fissions, complementary isochromosomes, telomeric fusions, balancing supernumerary chromosomes, neocentromeres, jumping translocations, and chromothripsis. Centromere fission results when a metacentric or submetacentric chromosome splits at the centromere, giving rise to two stable telocentric products. The Robertsonian fission reverses the fusion that had originally generated it. Telomeric fusion leads to a 45-chromosome count. With the balanced complementary isochromosome carrier, two stable exactly metacentric products are generated. A balancing small supernumerary marker chromosome contains material deleted..

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