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Unusual XX/XY chimerism.

L Iselius, B Lambert, J Lindsten

    Annals of Human Genetics
    |October 1, 1979
    PubMed
    Summary
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    Identical twin boys with XX/XY chimerism presented with two distinct cell populations in their blood. Further analysis revealed chimerism in somatic tissue in only one twin, leaving the origin of this condition unclear.

    Area of Science:

    • Human genetics
    • Developmental biology
    • Reproductive medicine

    Background:

    • Chimerism, the presence of two distinct cell populations originating from different zygotes, is a rare phenomenon.
    • Sex chromosome abnormalities, such as XX/XY karyotypes, can lead to complex developmental outcomes.

    Observation:

    • Two apparently identical twin boys were identified as XX/XY chimeras.
    • Both twins exhibited two distinct cell populations (A1 and B) in their peripheral blood.
    • Somatic tissue chimerism beyond blood cells was detectable in only one of the twins.

    Findings:

    • Genetic analysis, including chromosomal and gene marker assessments, was performed on both twins.
    • The precise mechanism leading to the XX/XY chimerism in these twins remains undetermined.

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  • Differential distribution of chimerism in non-blood tissues was observed between the twins.

    • Implications:

    • This case highlights the complexity of human chimerism and twin development.
    • Further research is needed to elucidate the developmental pathways leading to such unique genetic configurations.
    • Understanding chimerism is crucial for reproductive medicine and genetic counseling.