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Related Experiment Videos

A ring 14 chromosome with deleted short arm.

A P Amarose, E Dorus, P R Huttenlocher

    Human Genetics
    |January 1, 1980
    PubMed
    Summary

    A rare ring chromosome 14 (r(14)) was identified in a female infant. This genetic abnormality is associated with craniofacial abnormalities, seizures, and developmental delays.

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    Area of Science:

    • Genetics
    • Clinical Genetics
    • Pediatric Neurology

    Background:

    • Chromosomal abnormalities can lead to complex congenital disorders.
    • Ring chromosome 14 (r(14)) is a rare cytogenetic abnormality.
    • Understanding the phenotypic consequences of r(14) is crucial for diagnosis and management.