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Phenotypic Effects of Sex Chromosome Imbalance

  • Orlando J. Miller
  • Eeva Therman
Chapter

Abstract

The sex chromosomes show a much wider range of viable aneuploidy than do the autosomes, for several reasons. Each diploid somatic cell has only one active X, and most of the genes on any additional X chromosomes are inactivated. The Y chromosome contains very few genes. Mosaicism, with a normal cell line present, is much more common for sex chromosomes than for autosomes. Figure 19.1 summarizes the known nonmosaic numerical sex chromosome abnormalities. In addition to the examples in this figure, the chromosome constitution XYYYY has been found in a few highly abnormal individuals (Noël et al., 1988)..

Keywords

Turner Syndrome Sperm Nucleus Klinefelter Syndrome Gonadal Dysgenesis Pseudoautosomal Region 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer Science+Business Media New York 2001

Authors and Affiliations

  • Orlando J. Miller
    • 1
  • Eeva Therman
    • 2
  1. 1.Center for Molecular Medicine and GeneticsWayne State University School of MedicineDetroitUSA
  2. 2.Laboratory of GeneticsUniversity of WisconsinMadisonUSA

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