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Related Experiment Videos

A new chromosome instability disorder.

P Maraschio, D Peretti, S Lambiase

    Clinical Genetics
    |November 1, 1986
    PubMed
    Summary
    This summary is machine-generated.

    This study identified a high rate of chromosome aberrations in a woman with primary amenorrhea, microcephaly, and immunodeficiency. These findings suggest a potential new chromosome instability syndrome.

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    Area of Science:

    • Genetics
    • Human Genetics
    • Cytogenetics

    Background:

    • Primary amenorrhea, microcephaly, and immunodeficiency are complex clinical presentations.
    • Consanguinity in parents and a family history of early death with lymphoma suggest a potential genetic basis.
    • Previous studies have described chromosome instability syndromes with overlapping features.