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Assignment of aberration breakpoints in banded chromosomes

Abstract

CHROMOSOME banding techniques1–4 have made possible not only the detection but also a more accurate characterisation of the structural chromosomal changes encountered in clinical and experimental work. Using internationally agreed band patterns and nomenclature5, it is customary to assign breakpoints to aberrations such as translocations on the assumption that these ‘breakpoints’ correspond to the positions of breakage and rejoining which gave rise to the configuration observed. This assumption is frequently invalid, because it does not seem to be generally realised that the system carries (at least for chromosome-type exchanges) an inherent three-band uncertainty. This means that the most obvious breakpoint is not necessarily the site of transfer or rearrangement of the genetic material.

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SAVAGE, J. Assignment of aberration breakpoints in banded chromosomes. Nature 270, 513–514 (1977). https://doi.org/10.1038/270513a0

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