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Autosomal Aneuploidy

  • Chapter
The Principles of Clinical Cytogenetics

Abstract

The term aneuploidy refers to cytogenetic abnormalities in which all or part of one or more chromosomes is added or deleted. Autosomal aneuploidy refers to all such abnormalities that do not involve the sex chromosomes. These can be either numerical (the topic of this chapter) or structural, the vast majority being trisomies, and can be present only in some cells (mosaic aneuploidy) or in all cells (nonmosaic). The incidence of autosomal aneuploidy in newborns is estimated to be 0.2% (1). Many autosomal aneuploidies are incompatible with fetal survival and, therefore, have much higher incidences (approximately 27–30%) in spontaneous abortuses (2–4). These are discussed below and covered in detail in Chapter 12.

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  1. Genzyme Genetics, Pasadena, CA

    Jin-Chen C. Wang MD

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    Steven L. Gersen PhD

  2. School of Allied Health Professions, University of Connecticut, Storrs, CT

    Martha B. Keagle MEd

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Wang, JC.C. (2005). Autosomal Aneuploidy. In: Gersen, S.L., Keagle, M.B. (eds) The Principles of Clinical Cytogenetics. Humana Press, Totowa, NJ. https://doi.org/10.1385/1-59259-833-1:133

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