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Related Experiment Videos

46,X,i(Xq)/47,XX,+13 mosaicism.

M Igarashi, M Tsukahara, Y Sugio

    Annales De Genetique
    |January 1, 1985
    PubMed
    Summary
    This summary is machine-generated.

    This study describes a rare mosaicism in a girl with Turner syndrome, featuring both an isodicentric X chromosome and trisomy 13. This unique genetic condition highlights complex chromosomal abnormalities and their varied clinical presentations.

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    Area of Science:

    • Human Genetics
    • Cytogenetics
    • Reproductive Biology

    Background:

    • Turner syndrome is typically associated with a 45,X karyotype.
    • Mosaicism involving sex chromosome abnormalities and autosomal aneuploidies presents diagnostic challenges.
    • Trisomy 13 (Patau syndrome) is a severe genetic disorder with distinct clinical features.