Abstract
As stated in the Atlas of Human Chromosome Heteromorphisms (Wyandt, Tonk (2004) Kluwer, Dordrecht), “The cornerstone of genetics is variation…”. Heteromorphism, defined in the Atlas as a “microscopically visible chromosome region that is variable in size, morphology and staining properties in different individuals”, is just one form of normal variation in the human genome. The terms heteromorphism, normal variant and polymorphism are often used interchangeably, and although there are subtle distinctions, all three usually refer to variations in the human karyotype or genome that are heritable.
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Wyandt, H.E., Tonk, V.S. (2011). Introduction. In: Human Chromosome Variation: Heteromorphism and Polymorphism. Springer, Dordrecht. https://doi.org/10.1007/978-94-007-0896-9_1
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DOI: https://doi.org/10.1007/978-94-007-0896-9_1
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