Aneuploidy pp 433-444 | Cite as

Mechanisms and Detection of Chromosome Malsegregation Using Drosophila and the Yeast SaccharomycesCerevisiae

  • James M. Mason
  • Michael A. Resnick
Part of the Basic Life Sciences book series (BLSC, volume 36)

Abstract

Chromosome aneuploidy in humans may have severe consequences in the individuals in which it occurs or in the following generation (35; Evans, this Volume). Approximately 15% of recognized pregnancies result in spontaneous abortion (78). Approximately half of these result from chromosome abnormalities (13,67). The rate of aneuploidy may actually be much higher than this because early fetal losses may go undetected (12) and certain types of aneuploidy are underrepresented in this sample (5). In fact, the frequency of aneuploids among human sperm is 1.5–5% (47; Martin, this Volume). Among livebirths the frequency of aneuploidy is roughly 0.3% (4). Most of these result from trisomy of one of three autosomes, primarily chromosome 21 (Down syndrome), or from trisomy or monosomy for the sex chromosomes. Although it is generally assumed that meiotic nondisjunction is responsible for the aneuploidy in these spontaneous abortions and birth defects, mitotic aneuploidy may contribute substantially to these incidences. Mason (49) and Vig (77) have pointed out that mitotic nondisjunction in the germline will mimic meiotic nondisjunction, which may serve to explain some otherwise anomalous observations such as the paucity of monosomies among early abortuses and the high frequency of apparent meiosis 2 errors.

Keywords

Ethyl Recombination Acetonitrile Radium Ketone 

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Copyright information

© Plenum Press, New York 1985

Authors and Affiliations

  • James M. Mason
    • 1
  • Michael A. Resnick
    • 1
  1. 1.Cellular and Genetic Toxicology BranchNational Institute of Environmental Health SciencesUSA

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