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Related Experiment Videos

Ring chromosome 14: a distinct clinical entity

R Schmidt, L Eviatar, H M Nitowsky

    Journal of Medical Genetics
    |August 1, 1981
    PubMed
    Summary

    Ring chromosome 14 syndrome is characterized by intellectual disability, skin pigmentation disorders, seizures, and distinct facial features. This genetic condition presents a recognizable clinical pattern in affected infants.

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    Area of Science:

    • Genetics
    • Clinical Medicine
    • Pediatrics

    Background:

    • Ring chromosome 14 is a rare chromosomal abnormality.
    • Understanding the phenotypic spectrum of chromosomal aberrations is crucial for diagnosis.

    Observation:

    • A case of an infant girl with ring chromosome 14 is presented.
    • Review of this case and six prior reports of ring 14.

    Findings:

    • A characteristic clinical syndrome associated with ring chromosome 14 is suggested.
    • Key features include intellectual disability, skin pigmentation disorder, seizures, and dysmorphic facial features (e.g., flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, large low-set ears).

    Implications:

    • Recognition of the ring chromosome 14 syndrome aids in early diagnosis and management.
    • Further research into the molecular mechanisms underlying this syndrome is warranted.

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