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Related Experiment Videos

Ring chromosome 14 without deletion.

E Angelova, B Mitreva, D Toncheva

    Acta Paediatrica Hungarica
    |January 1, 1987
    PubMed
    Summary

    A rare case of ring chromosome 14 in a male infant is presented. This genetic condition shows varied symptoms, highlighting its clinical polymorphism.

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    Human biology·2015

    Area of Science:

    • Genetics
    • Human Chromosome Abnormalities
    • Pediatric Case Reports

    Background:

    • Ring chromosome 14 (r(14)) is a rare chromosomal abnormality.
    • Characterized by a circular structure involving chromosome 14.
    • Often associated with developmental and neurological issues.

    Observation:

    • A male infant presented with features suggestive of a chromosomal disorder.
    • G-banding analysis of early metaphase chromosomes was performed.
    • No visible deletions were detected on the long (q) or short (p) arms of chromosome 14.

    Findings:

    • The case confirms a diagnosis of ring chromosome 14.
    • The absence of detectable deletions via G-banding is noted.
    • The report emphasizes the characteristic symptoms and clinical polymorphism of r(14).

    Implications:

    • This case contributes to the understanding of ring chromosome 14 phenotypes.
    • Highlights the importance of cytogenetic analysis in diagnosing rare genetic disorders.
    • Further research into genotype-phenotype correlations in r(14) is warranted.

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