Journal article

Molecular distinction between true centric fission and pericentric duplication-fission

J Perry, S Nouri, P La, A Daniel, ZH Wu, S Purvis-Smith, E Northrop, KHA Choo, HR Slater

HUMAN GENETICS | SPRINGER | Published : 2005


Centromere (centric) fission, also known as transverse or lateral centric misdivision, has been defined as the splitting of one functional centromere of a metacentric or submetacentric chromosome to produce two derivative centric chromosomes. It has been observed in a range of organisms and has been ascribed an important role in karyotype evolution; however, the underlying mechanisms remain unknown. We have investigated four cases of apparent centric fission in humans. Two cases show a missing chromosome 22 or 18 that is replaced by two centric ring products, a third case shows two chromosome-10-derived telocentric chromosomes, whereas a fourth case involves the formation of two chromosome-1..

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