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Turner syndrome with rare karyotypes.

K Boczkowski, M Mikkelsen, H Poulsen

    Clinical Genetics
    |May 1, 1978
    PubMed
    Summary

    This study presents five Turner syndrome cases with rare chromosomal abnormalities, including deletions and mosaicism. Findings highlight the diverse genetic landscape of Turner syndrome, extending to male karyotypes.

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    Area of Science:

    • Genetics
    • Reproductive Biology
    • Human Karyotyping

    Background:

    • Turner syndrome is typically associated with a 45,X karyotype.
    • Variations in X chromosome structure and presence of Y chromosome material can occur.

    Observation:

    • This study details five cases of Turner syndrome exhibiting uncommon chromosomal configurations.
    • Karyotypes ranged from X chromosome deletions to mosaicism and even a 46,XY karyotype.

    Findings:

    • Identified karyotypes included 46,XXp--, 45,X/46,X,r(X), 45,X/47,XYY, and 46,XY.
    • These findings expand the known spectrum of chromosomal abnormalities in Turner syndrome.

    Implications:

    • Understanding these rare karyotypes is crucial for accurate diagnosis and genetic counseling.
    • Further research into genotype-phenotype correlations in these atypical cases is warranted.