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Related Experiment Videos

Ring 18 mosaicism in identical twins.

A Hata, Y Suzuki, I Matsui

    Human Genetics
    |January 1, 1982
    PubMed
    Summary

    Identical twins with ring chromosome 18 (r(18)) mosaicism presented different phenotypes. Despite similar lymphocyte r(18) percentages, fibroblast analysis revealed significant differences, explaining the phenotypic discordance.

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    Area of Science:

    • Genetics
    • Developmental Biology
    • Human Pathology

    Background:

    • Identical twins typically share the same genetic makeup.
    • Mosaicism, the presence of two or more cell lines with different genotypes, can lead to variable clinical presentations.
    • Ring chromosome 18 (r(18)) syndrome is a rare chromosomal disorder associated with various developmental abnormalities.

    Observation:

    • A pair of male identical twins was studied, exhibiting discordant phenotypes.
    • Twin 1 presented with characteristic manifestations of r(18) syndrome, while Twin 2 appeared phenotypically normal.
    • Cytogenetic analysis of cultured lymphocytes showed similar r(18) proportions (19.7% vs. 19.2%) in both twins.

    Findings:

    • Fibroblast cultures revealed a striking difference in r(18) cell presence: 51% in Twin 1 versus 0% in Twin 2.
    • This tissue-specific mosaicism in fibroblast cultures explains the phenotypic discordance between the identical twins.
    • Lymphocyte r(18) percentages did not accurately reflect the phenotypic differences observed.

    Implications:

    • Highlights the importance of tissue-specific genetic analysis in understanding mosaicism and variable expressivity.
    • Suggests that fibroblast analysis may be crucial for diagnosing or explaining r(18) syndrome in cases of phenotypic discordance.
    • Provides insights into the complex mechanisms underlying the development of genetic syndromes even in genetically identical individuals.

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