Abstract
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• Chromosome deletions or duplications that do not affect vital functions can be maintained in an organism, where they can be characterized by chromosome banding or in situ hybridization techniques, as well as by pairing behavior at meiosis.
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• Some deletions or duplications have phenotypes that are typical of dominant mutations. Deletions, in particular, are involved in numerous human abnormalities.
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• Chromosome deletions can be terminal—at least when first produced—or interstitial, and duplications may be adjacent to the original segment or displaced on the same or a different chromosome.
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• Losses or gains of chromosome segments may arise from unequal crossingover, from other chromosome aberrations such as reciprocal translocations or as the direct effect of a chromosome-breaking agent.
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• Deletions usually have more severe effects on viability and fertility than duplications.
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Appels, R., Morris, R., Gill, B.S., May, C.E. (1998). Losses and Gains of Chromosome Segments. In: Chromosome Biology. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-5409-7_8
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