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Balanced structural changes involving the human X: effect on sexual phenotype.

K Madan

    Human Genetics
    |January 1, 1983
    PubMed
    Summary

    The critical region on the X chromosome (Xq13-26) is linked to female infertility. However, interactions between X chromosome segments and external loci, not just breaks, may cause abnormal sexual phenotypes in both sexes.

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    Area of Science:

    • Human Genetics
    • Reproductive Biology
    • Cytogenetics

    Background:

    • Balanced X-autosome translocations and X-inversions are associated with reproductive issues.
    • A specific segment on the X chromosome (Xq13-26) has been hypothesized as critical for normal sexual phenotype.

    Purpose of the Study:

    • To review cases of X-autosome translocations and X-inversions to confirm the existence and refine the definition of a critical region on the X chromosome.
    • To investigate the genetic basis of abnormal sexual phenotypes in carriers of X chromosome rearrangements.

    Main Methods:

    • Review of 107 cases with balanced X-autosome translocations and 11 cases with X-inversions.
    • Analysis of X-breakpoint locations in relation to fertility and sexual phenotype in female and male carriers.

    Main Results:

    • The critical segment Xq13-26 was confirmed, with 36 of 78 informative females being infertile and having X-breakpoints in this region.
    • Three fertile females with deletions in this segment suggest interactions between loci are crucial.
    • Exceptions to the critical region hypothesis were observed, with some females having breakpoints in the critical region but remaining fertile or experiencing milder reproductive issues.
    • Four of six exceptional females had breakpoints in band Xq22, suggesting potential sub-segmentation.
    • Seven of nine adult male carriers of X-autosome translocations were infertile, indicating potential disturbance of spermatogenesis.
    • Male carriers of X-inversions did not necessarily experience infertility, but a position effect may influence male sexual phenotype.

    Conclusions:

    • The critical region Xq13-26 plays a role in female fertility, but interactions between chromosomal loci are key to sexual phenotype.
    • Further research is needed to understand the complex genetic mechanisms underlying sexual phenotypes in carriers of X chromosome rearrangements.
    • Position effects may influence male fertility and sexual phenotype in carriers of X chromosome abnormalities.

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