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Related Experiment Videos

18p-Mosaicism: case report and review

T Motegi, A Ichikawa, M Noda

    Human Genetics
    |October 31, 1978
    PubMed
    Summary

    This study reports a rare case of 18p- mosaic syndrome in an infant. Despite a low percentage of abnormal cells, the patient exhibited severe symptoms, highlighting the complexity of this genetic condition.

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    Area of Science:

    • Genetics
    • Pediatrics
    • Clinical Case Study

    Background:

    • 18p- syndrome is a rare chromosomal disorder caused by a deletion on the short arm of chromosome 18.
    • Mosaicism, where an individual has cell populations with different genetic makeup, can occur in 18p- syndrome.

    Observation:

    • A 5-month-old male infant presented with intractable seizures and severe ophthalmological abnormalities.
    • The infant was diagnosed with 18p- mosaic, with 7-8% abnormal cells in blood and 55% in skin.
    • Approximately 35% of the short arm of chromosome 18 was deleted.

    Findings:

    • This case represents the fifth reported instance of 18p- mosaic.
    • The infant displayed a severe clinical phenotype despite a low proportion of abnormal cells in peripheral blood.
    • The extent of the deletion on chromosome 18 was relatively small.

    Implications:

    • This case underscores the significant clinical variability within 18p- mosaic syndrome.
    • It suggests that the proportion of abnormal cells in blood may not always correlate with disease severity.
    • Further research is needed to understand the genotype-phenotype correlations in 18p- mosaicism.

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