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Ring chromosome 14 syndrome

J P Fryns, P Petit, A Kleczkowska

    Annales De Genetique
    |January 1, 1982
    PubMed
    Summary
    This summary is machine-generated.

    A rare ring chromosome 14 was identified in a young female with severe intellectual disability and dysmorphic features. This chromosomal abnormality involved specific breakpoints and banding patterns.

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    Area of Science:

    • Genetics
    • Human Cytogenetics
    • Clinical Dysmorphology

    Background:

    • Ring chromosome 14 is a rare chromosomal abnormality.
    • It is associated with intellectual disability and dysmorphic features.

    Observation:

    • A 12.5-year-old female presented with severe intellectual disability and minor dysmorphic syndrome.
    • Karyotyping revealed a ring chromosome 14.

    Findings:

    • The ring chromosome 14 had breakpoints at 14p11 and 14q31.
    • C-banding and Ag NOR-banding were positive, indicating specific chromosomal structural changes.

    Implications:

    • This case highlights the genetic basis of intellectual disability and dysmorphic syndromes.
    • Understanding the specific breakpoints and banding patterns of ring chromosome 14 is crucial for genetic counseling and diagnosis.