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Dicentric X isochromosomes in man.

R T Howell, S H Roberts, R J Beard

    Journal of Medical Genetics
    |December 1, 1976
    PubMed
    Summary

    Researchers identified dicentric X isochromosomes in Turner syndrome cases, suggesting one centromere inactivates. This dicentric structure may explain mosaicism prevalence in Turner syndrome patients.

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    Area of Science:

    • Genetics
    • Cytogenetics
    • Reproductive Biology

    Background:

    • Turner syndrome is a chromosomal condition affecting females.
    • Isochromosomes, particularly i(Xq), are common structural abnormalities in Turner syndrome.
    • The exact structure and formation mechanism of i(Xq) remain areas of investigation.

    Purpose of the Study:

    • To investigate the structural basis of apparent X isochromosomes in Turner syndrome.
    • To explore the relationship between chromosome structure and mosaicism in these cases.
    • To elucidate the formation mechanisms of dicentric X isochromosomes.

    Main Methods:

    • Analysis of four Turner syndrome cases with apparent i(Xq).
    • Detailed banding pattern analysis to identify chromosomal structures.
    • Examination of centromeric heterochromatin regions.

    Main Results:

    • Apparent i(Xq) chromosomes possessed two centromeric heterochromatin regions, indicating a dicentric structure.
    • One centromere appeared inactivated, allowing monocentric function.
    • Mosaicism was prevalent, potentially due to the dicentric nature of the chromosomes.
    • Banding patterns revealed different exchange sites in at least three cases.

    Conclusions:

    • The study suggests that many X isochromosomes in Turner syndrome are structurally dicentric.
    • Inactivation of one centromere allows dicentric chromosomes to function monocentrically.
    • The dicentric nature of these chromosomes is a likely cause of mosaicism in Turner syndrome.

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