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Related Experiment Videos

Trisomy 13 and extended survival.

J M Cowen, S Walker, F Harris

    Journal of Medical Genetics
    |April 1, 1979
    PubMed
    Summary
    This summary is machine-generated.

    This report details a 9-year-old boy with Patau's syndrome (trisomy 13). His case is notable for surviving longer than typically expected for this genetic condition.

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    Area of Science:

    • Genetics
    • Pediatrics
    • Medical Case Reports

    Background:

    • Trisomy 13, also known as Patau syndrome, is a severe genetic disorder.
    • It is characterized by a full or partial extra copy of chromosome 13.
    • Classical Patau syndrome is associated with significant developmental delays and multiple congenital anomalies, leading to a short life expectancy.

    Observation:

    • A 9-year-old boy presented with classical clinical features consistent with trisomy 13.
    • Genetic confirmation was obtained through chromosome analysis of both blood and skin samples.
    • The patient exhibited relative longevity, surviving to 9 years of age.

    Findings:

    • The case confirms the diagnosis of trisomy 13 through cytogenetic analysis.
    • The primary finding of interest is the patient's survival beyond the typical prognosis for Patau syndrome.

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  • This suggests potential factors influencing longevity in individuals with trisomy 13.

    • Implications:

    • This case highlights the variability in clinical presentation and survival in trisomy 13.
    • Further research into factors contributing to extended survival in Patau syndrome is warranted.
    • Understanding these factors could inform future clinical management and support for affected individuals and families.