Abstract

Chromosome aberrations include changes in chromosome number (gains and losses) and changes in structure (deletions, inversions, and exchanges). Chromosomes can be viewed by standard light microscopy and many of these aberration types can be observed. More recently, a combination of tagged DNA probes and fluorescence microscopy has allowed for the observation of all classes of aberration and an assignment of the chromosomes involved. Changes in chromosome number can result in spontaneous abortions and, when present in newborns, to quite severe birth defects. Structural chromosome changes can lead to birth defects, cancer, and other late onset disease outcomes.

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