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Ring chromosome 13 syndrome

K Fried, M Rosenblatt, G Mundel

    Clinical Genetics
    |March 1, 1975
    PubMed

    Insights

    Ring chromosome 13 syndrome is characterized by microcephaly, intellectual disability, and distinct facial features. This case report supports the definition of a clinically recognizable syndrome associated with ring chromosome 13.

    Area of Science:

    • Genetics
    • Clinical Medicine
    • Pediatrics

    Background:

    • Ring chromosome 13 (r(13)) is a rare chromosomal abnormality.
    • It is associated with a spectrum of developmental abnormalities.
    • Previous reports suggest a recognizable clinical phenotype.

    Purpose of the Study:

    • To describe a case of ring chromosome 13.
    • To contribute to the definition of the r(13) syndrome phenotype.
    • To highlight key clinical features associated with r(13).

    Main Methods:

    • Case report of a female infant with r(13).
    • Clinical examination and developmental assessment.
    • Review of relevant literature.

    Main Results:

    • The patient presented with microcephaly, mental retardation, and minor malformations.
    • Facial features included asymmetrical palpebral fissures, epicanthic folds, and a broad nasal bridge.
    • Surgical intervention for premature metopic suture closure was performed.

    Conclusions:

    • This case aligns with previous descriptions of ring chromosome 13 syndrome.
    • The distinct combination of microcephaly, intellectual disability, and specific dysmorphic features supports a defined clinical entity.
    • Further case accumulation is valuable for refining the understanding of r(13) syndrome.

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