The number, size, shape, and banding pattern of chromosomes make them easily identifiable in a karyogram and allow for the assessment of many chromosomal abnormalities. Disorders in chromosome number, or aneuploidies, are typically lethal to the embryo, although a few trisomic genotypes are viable. Because of X inactivation, aberrations in sex chromosomes typically have milder effects on an individual. Aneuploidies also include instances in which segments of a chromosome are duplicated or deleted. Chromosome structures also may be rearranged, for example by inversion or translocation. Both of these aberrations can result in negative effects on development, or death. Because they force chromosomes to assume contorted pairings during meiosis I, inversions and translocations are often associated with reduced fertility because of the likelihood of nondisjunction.
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