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Mosaicism in XX males

R Miró, M R Caballín, S Marina

    Human Genetics
    |November 24, 1978
    PubMed
    Summary
    This summary is machine-generated.

    Researchers describe three males with a 46,XX karyotype, finding Y-chromosome material in two. This contributes to understanding XX male mosaicism, now estimated at 17% in such cases.

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    Area of Science:

    • Genetics
    • Human Biology
    • Reproductive Medicine

    Background:

    • The 46,XX karyotype is typically associated with females.
    • XX male syndrome (also known as de la Chapelle syndrome) is a rare condition where an individual with a 46,XX karyotype presents with male phenotype.
    • The presence of Y-chromosome material, such as the SRY gene, is often implicated in the development of XX male syndrome.

    Purpose of the Study:

    • To report on three new cases of males with a 46,XX karyotype.
    • To investigate the presence of Y-chromosome material in these individuals.
    • To contribute to the understanding of XX male mosaicism.

    Main Methods:

    • Karyotyping of lymphocyte metaphases.
    • Fluorescence in situ hybridization (FISH) for Y-chromosome detection (Y body analysis) in oral mucosa cells.

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    Main Results:

    • Three males with a 46,XX karyotype were identified.
    • Evidence of Y-chromosome material was found in two of the three cases.
    • Case 1: 1 of 500 lymphocyte metaphases showed a 48,XXY karyotype (mosaicism).
    • Case 2: 1 of 400 oral mucosa cells contained a Y body (indicating Y-chromosome presence).
    • The estimated proportion of low-grade XX/XXY mosaics among XX males is now approximately 17%.

    Conclusions:

    • The findings support the role of Y-chromosome material in the etiology of XX male syndrome.
    • Mosaicism (XX/XXY) is a significant factor in some cases of XX males.
    • Continued investigation of XX male cases is important for understanding genetic sex determination and variations.