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Related Experiment Videos

A case of trisomy 20?

J Wahlström, J Borsgärd, K G Sabel

    Clinical Genetics
    |February 1, 1976
    PubMed
    Summary

    This study identified a trisomy of chromosome 20 in a girl with developmental delays and abnormal physical features. Genetic analysis confirmed the extra chromosome 20 in both lymphocyte and fibroblast cells.

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    Area of Science:

    • Human Genetics
    • Cytogenetics
    • Developmental Biology

    Background:

    • Genetic abnormalities can significantly impact child development.
    • Accurate chromosome analysis is crucial for diagnosing developmental disorders.

    Observation:

    • A female infant presented with congenital anomalies, including a distinctive 'cat's cry', poor weight gain, and psychomotor retardation.
    • Initial cytogenetic analysis suggested an extra chromosome in pair 20.

    Findings:

    • Photometric examination of G-banded lymphocyte cultures revealed a probable trisomy 20.
    • Further analysis of fibroblast cultures confirmed the presence of the deviating chromosome, establishing trisomy 20.

    Implications:

    • This case highlights the importance of cytogenetic analysis in identifying genetic causes of developmental abnormalities.
    • Trisomy 20, though rare, can lead to a specific phenotype including developmental delay and dysmorphic features.
    • Accurate genetic diagnosis aids in prognosis and genetic counseling for affected families.

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