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Case report. Trisomy 9 syndrome

G Annerén, G Sedin

    Acta Paediatrica Scandinavica
    |January 1, 1981
    PubMed
    Summary
    This summary is machine-generated.

    Two cases of trisomy 9 are presented, including complete trisomy 9 and trisomy 9 mosaicism. Novel malformations were observed, highlighting differences in these genetic conditions.

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    Area of Science:

    • Genetics
    • Pediatrics
    • Medical Genetics

    Background:

    • Trisomy 9 is a rare chromosomal abnormality.
    • Understanding its phenotypic spectrum is crucial for diagnosis and management.

    Observation:

    • Case 1: Complete trisomy 9 with a novel perineal anomaly (short anogenital distance, absent anal sphincter muscle).
    • Case 2: Trisomy 9 mosaicism presenting with a mesenterium commune, a previously undescribed feature.
    • Both patients experienced adverse outcomes, with Case 1 succumbing in the neonatal period.

    Findings:

    • The study details two unique cases of trisomy 9.
    • Identifies previously unreported congenital anomalies associated with trisomy 9 and its mosaic form.
    • Highlights key clinical differences between complete trisomy 9 and trisomy 9 mosaicism.

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    Implications:

    • Expands the known phenotypic variability of trisomy 9.
    • Suggests that mesenterium commune may be associated with trisomy 9 mosaicism.
    • Emphasizes the importance of detailed clinical examination and genetic testing for accurate diagnosis.