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Related Experiment Videos

Complete trisomy 22.

M H Shokeir

    Clinical Genetics
    |September 1, 1978
    PubMed
    Summary
    This summary is machine-generated.

    Complete trisomy 22, a rare genetic condition, was identified in two young girls. This chromosomal abnormality is linked to severe developmental delays and neurological issues, suggesting a central nervous system degenerative process.

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    Area of Science:

    • Genetics
    • Human Genetics
    • Cytogenetics

    Background:

    • Trisomy 22 is a rare chromosomal abnormality.
    • Complete trisomy 22 without mosaicism is exceptionally uncommon.

    Observation:

    • Two unrelated girls, aged 6 and 8, presented with complete trisomy 22.
    • Consistent features included advanced parental age, recurrent pregnancy loss, severe developmental delay, epilepsy, hypotonia, neurological deficits, and distinct physical stigmata.

    Findings:

    • The extra chromosome was confirmed as chromosome 22 in both cases.
    • Clinical course suggested a degenerative process affecting central nervous system neurons.
    • Physical stigmata included frontal bossing, hypertelorism, bulbous nose, antimongoloid slant, strabismus, and abnormal dermatoglyphics.

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    Implications:

    • This case highlights the severe neurodevelopmental impact of complete trisomy 22.
    • Understanding this condition aids in genetic counseling and potential therapeutic strategies.
    • Further research into the pathogenesis of central nervous system degeneration in trisomy 22 is warranted.