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Key Features

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  • Incidence of trisomy 13 is about 1 per 12,000 live births, and 60% of affected individuals are female

  • Risk of having a child affected with a trisomy increases with maternal age

  • Most infants have congenital anomalies that are incompatible with survival

  • Surviving children demonstrate failure to thrive, cognitive disabilities, apneic spells, seizures, and deafness

  • Death usually occurs in early infancy or by the second year of life, commonly as a result of heart failure or infection

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Clinical Findings

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  • Characteristic features

    • Normal birth weight

    • Central nervous system malformations

    • Eye malformations

    • Cleft lip and palate

    • Polydactyly or syndactyly

    • Congenital heart disease

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Diagnosis

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  • Rapid confirmation of suspected trisomy 13 can be made by fluorescence in situ hybridization (FISH)

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Treatment

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