Abstract
A neuploidy is the loss or gain of individual chromosomes. It can be the result of nondisjunction in a premeiotic mitotic division in the germline of either parent, a first or second meiotic division in either parent, or an early embryonic mitotic (postzygotic) division in the affected individual. Nondisjunction refers to any process that causes two homologous chromosomes to go to the same pole instead of segregating to opposite poles. Some meiotic aberrations leading to nondisjunction are described in Table 11.1 and illustrated in Fig. 11.1. When homologous chromosomes fail to pair or fail to form chiasmata the homologues fall apart and appear as univalents in diplotene. Univalents may drift at random to the two poles in the first division and divide regularly in the second. Alternatively, they may divide mitotically in anaphase I and in anaphase II drift at random to opposite poles or fail to go to either pole, rarely, one may misdivide at the centromere, just as univalents might in the first meiotic division. Only a small segment of the XY bivalent forms a synaptonemal complex in which crossing over takes place (Fig. 17.2). Thus, the X and Y remain as univalents much more often than even the smallest autosome pair. Frequencies of univalents vary among different individuals, but the mean frequency of unpaired sex chromosomes in the male is about 11 per cent (Laurie and Hultén, 1985). Multiple aneuploidy of one or several chromosomes is very uncommon, except for the sex chromosomes. Polyploidy (triploidy or tetraploidy) is the gain of whole sets of chromosomes.
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Miller, O.J., Therman, E. (2001). Meiotic Abnormalities: Abnormal Numbers of Chromosomes. In: Human Chromosomes. Springer, New York, NY. https://doi.org/10.1007/978-1-4613-0139-4_11
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DOI: https://doi.org/10.1007/978-1-4613-0139-4_11
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