Trisomy 13

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Trisomy 13, also known as Patau syndrome, is a relatively common chromosomal abnormality.

Features

  • Midface abnormality - key feature.
    • An extreme example: holoprosencephaly - failure of the forebrain to divide into hemispheres.[1]
  • Cardiac abnormalities.
  • Aplasia cutis congenita (AKA aplasia cutis) - congenital absence of hair; usu. on the scalp.[2]
  • Polydactyly - more than the normal number of digits.[3]
  • Horseshoe kidney.

See also

References