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Complete trisomy 9 in two liveborn infants

S Mantagos, J W McReynolds, M R Seashore

    Journal of Medical Genetics
    |October 1, 1981
    PubMed
    Summary
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    Complete trisomy 9 in newborns causes severe congenital malformations and early death. Chromosome studies are crucial for diagnosing these conditions and informing parents about recurrence risks.

    Area of Science:

    • Genetics
    • Pediatrics
    • Developmental Biology

    Background:

    • Trisomy 9 is a rare chromosomal abnormality.
    • Multiple congenital malformations can lead to stillbirth or early infant death.

    Purpose of the Study:

    • To describe the phenotype and outcome of two newborns with complete trisomy 9.
    • To compare these cases with previously reported instances of trisomy 9.
    • To emphasize the importance of cytogenetic analysis in neonates with congenital anomalies.

    Main Methods:

    • Karyotyping of peripheral blood lymphocytes from two unrelated infants.
    • Clinical examination and documentation of phenotypic features.
    • Review of literature on trisomy 9.

    Main Results:

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    • Both infants presented with a consistent pattern of multiple malformations including facial dysmorphia, skeletal, cardiovascular, renal, and central nervous system anomalies.
    • Both infants died within hours of birth.
    • A consistent pattern of malformations and extremely short survival was observed across reported cases of trisomy 9.

    Conclusions:

    • Complete trisomy 9 is associated with a severe phenotype and invariably fatal outcome in the neonatal period.
    • Chromosome studies are essential for accurate diagnosis in infants with congenital malformations and early demise.
    • Genetic counseling regarding recurrence risk is vital for affected families.