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Related Experiment Videos

Partial trisomy 4q in two unrelated cases.

M Andrle, A Erlach, A Rett

    Human Genetics
    |June 19, 1979
    PubMed
    Summary

    This study details two cases of 4q trisomy, a genetic condition affecting chromosome 4. Key symptoms observed include developmental delays and distinct physical malformations in affected individuals.

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    [Amplitude summation and the pendulum test as elements of the otoneurologic examination].

    HNO·1989

    Area of Science:

    • Genetics
    • Human Chromosome Research
    • Pediatric Medicine

    Background:

    • 4q trisomy is a rare chromosomal abnormality.
    • Understanding the phenotypic spectrum is crucial for diagnosis and management.

    Observation:

    • Two unrelated cases of 4q trisomy, specifically involving the 4q25 to 4qter segment, were identified.
    • Observed clinical features included psychomotor retardation, microcephaly, ear malformations, retrognathia, limb anomalies, and cryptorchism in a male patient.

    Findings:

    • The described cases expand the known clinical presentations of 4q trisomy.
    • Comparison with 19 previously reported cases aids in delineating genotype-phenotype correlations.

    Implications:

    • Improved understanding of 4q trisomy can aid in genetic counseling and prenatal diagnosis.
    • Further research can refine diagnostic criteria and therapeutic strategies for affected individuals.

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