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Related Experiment Videos

The brain in partial trisomy 18: a case report.

E J Novotny, H Urich

    Journal of Child Neurology
    |July 1, 1987
    PubMed
    Summary
    This summary is machine-generated.

    Partial trisomy 18 in a young male caused severe developmental delays, blindness, and epilepsy. Neuropathological findings included microcephaly and visual system atrophy.

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    Area of Science:

    • Genetics
    • Neurology
    • Pathology

    Background:

    • Partial trisomy of the long arm of chromosome 18 (18q+) is a rare chromosomal abnormality.
    • This condition is associated with a spectrum of developmental and neurological abnormalities.

    Observation:

    • A clinical and neuropathological report of a 27-year-old male with 18q+.

    Findings:

    • The patient presented with severe psychomotor retardation, blindness, and epilepsy.
    • Neuropathological examination revealed microcephaly, a left occipital lobe diverticulum, and severe visual system atrophy.

    Implications:

    • This case highlights the severe neurological consequences of partial trisomy 18.
    • Understanding these findings aids in diagnosing and managing similar rare genetic disorders.