Autosomal Aneuploidy

  • Jin-Chen C. Wang


The term aneuploidy refers to cytogenetic abnormalities in which all or part of one or more chromosomes is duplicated 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 may 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 in this chapter and covered in detail in Chap. 12.


Down Syndrome Skin Fibroblast Ventricular Septal Defect Facial Dysmorphism Atrial Septal Defect 
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© Springer Science+Business Media New York 2013

Authors and Affiliations

  1. 1.Department of Cytogenetics, Genzyme GeneticsMonroviaUSA

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