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Human Genetics

, Volume 54, Issue 2, pp 133–143 | Cite as

X chromosome constitution and the human female phenotype

  • Eeva Therman
  • C. Denniston
  • Gloria E. Sarto
  • Margaret Ulber
Review Articles

Summary

The correlations of abnormal X chromosome constitutions and the resulting phenotypes in the human female are reviewed. The following hypotheses put forward to explain these correlations are discussed in detail: (1) The damage is done before X inactivation; (2) An effect is exerted between reactivation of the X chromosome(s) and meiosis in oocytes; (3) A recessive gene(s) in hemizygous condition might be expressed in the cases in which the same X is active in all cells; (4) A change in the number of presumed active regions on the inactive X chromosomes might have an effect; (5) A position effect, in that the region Xq13-q27 has to be intact in both X chromosomes to allow normal development, may be responsible; (6) An effect during the period when cells with different inactivation patterns compete is a probability; (7) The original X inactivation may be neither regular nor random.

The conclusion reached is that the phenotypic effects of a specific X chromosome aberration may be simultaneously exerted through different pathways (Tables 1 and 2). Hypotheses (2), (4), (5), and (6) are considered probable. Hypothesis (3) has been discarded, and there is very little evidence for hypotheses (1) and (7).

Keywords

Internal Medicine Metabolic Disease Chromosome Aberration Phenotypic Effect Chromosome Constitution 
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-Verlag 1980

Authors and Affiliations

  • Eeva Therman
    • 1
  • C. Denniston
    • 1
  • Gloria E. Sarto
    • 2
  • Margaret Ulber
    • 1
  1. 1.Department of Medical GeneticsUniversity of WisconsinMadisonUSA
  2. 2.Department of Obstetrics and GynecologyNorthwestern UniversityChicagoUSA

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