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X chromosome constitution and the human female phenotype

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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).

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Authors and Affiliations

  1. Department of Medical Genetics, University of Wisconsin, 53706, Madison, WI, USA

    Eeva Therman, C. Denniston & Margaret Ulber

  2. Department of Obstetrics and Gynecology, Northwestern University, Chicago, IL, USA

    Gloria E. Sarto

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  1. Eeva Therman
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  2. C. Denniston
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  3. Gloria E. Sarto
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  4. Margaret Ulber
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Therman, E., Denniston, C., Sarto, G.E. et al. X chromosome constitution and the human female phenotype. Hum Genet 54, 133–143 (1980). https://doi.org/10.1007/BF00278961

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