The Effects of Chromosomal Aneuploidy on Early Development Experimental Approaches

  • Charles J. Epstein


While chromosome imbalance (aneuploidy) is a frequent outcome of conception and a cause of embryonic and fetal death (Golbus, Chapter 9, this volume), very little work had been done until very recently on the effects of chromosome abnormalities during the preimplantation period of development. The major reasons for this lack of investigation have been the following: the frequencies of spontaneous aneuploidy in convenient experimental animals, particularly the mouse, are relatively low; techniques for identifying individual chromosomes were not available; nondestructive methods for identifying the aneuploid embryos did not exist. However, the recent development of staining techniques that permit specific chromosome identification and of two experimental approaches described in this chapter now make it possible to use the mouse as a subject for the systematic study of early embryonic aneuploidy.


Blastocyst Stage Robertsonian Translocation Metacentric Chromosome Chromosomal Aneuploidy Glucose Phosphate Isomerase 
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Copyright information

© Plenum Press, New York 1981

Authors and Affiliations

  • Charles J. Epstein
    • 1
  1. 1.Departments of Pediatrics and of Biochemistry and BiophysicsUniversity of CaliforniaSan FranciscoUSA

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