Abstract
The chromosome theory of Mendelian inheritance was launched in 1902 by Sutton and Boveri. In the same year, Garrod, establishing the autosomal-recessive mode of inheritance for alkaptonuria and commenting on metabolic individuality in general, created the paradigm of “inborn errors of metabolism.” Simple modes of inheritance were soon established for many other human disorders. Not much more than 10 years later, Bridges (1916) [311] examined in Drosophila the first case of a disturbance in chromosome distribution during meiosis and named it “nondisjunction.” Cytogenetics of animals and plants flourished during the first half of the century, and almost all important phenomena in the field of cytogenetics were discovered during this time period. Moreover, cytogenetic methods helped to elucidate many basic laws of mutation.
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Vogel, F., Motulsky, A.G. (1986). Human Chromosomes. In: Human Genetics. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-02489-8_3
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