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Related Experiment Videos

The trisomy 4p syndrome: a case report

G Keren, R Chaki, M B Katznelson

    European Journal of Pediatrics
    |May 1, 1982
    PubMed
    Summary

    Partial trisomy of chromosome 4 short arm is a rare disorder. This case highlights its distinct facial and limb features, often linked to parental translocations.

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    Area of Science:

    • Genetics
    • Clinical Genetics
    • Pediatric Genetics

    Background:

    • Partial trisomy of the short arm of chromosome 4 (4p+) is a rare chromosomal abnormality.
    • The condition presents with a recognizable pattern of clinical and dermatoglyphic features.

    Observation:

    • A 2-year-old female exhibited characteristic features of 4p+.
    • Observed anomalies included frontal bossing, deep-set eyes, hypertelorism, midfacial hypoplasia, dysplastic ears, prognathism, and limb malformations.

    Findings:

    • Karyotyping confirmed trisomy for the distal two-thirds of the short arm of chromosome 4.
    • The chromosomal aberration in this case was attributed to an unbalanced translocation in a parent.

    Implications:

    • This case reinforces the clinical recognizability of 4p+ syndrome.
    • Understanding the genetic basis, including parental translocations, is crucial for genetic counseling and diagnosis.

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