Trisomy 13

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

Characteristics

Features:[1][2]

  • Midface abnormality - key feature.
    • An extreme example: holoprosencephaly - failure of the forebrain to divide into hemispheres.[3]
  • Cardiac abnormalities.
  • Aplasia cutis congenita (AKA aplasia cutis) - congenital absence of hair; usu. on the scalp.[4]
  • Polydactyly - more than the normal number of digits.[5]
  • Horseshoe kidney.
  • Rocker bottom feet.

Images:

A terrible mnemonic

PATAU:

  • Polydactyly.
  • Aplasia cutis & low hair line.
  • Terrible face - midface abnormalities, including cleft left and palate.
  • Abnormal heart (cardiac defects).
  • Urinary system abnormalities (horseshoe kidney).

See also

References

  1. ↑ Sherman, C. Recent advances in pathology (lecture). 9 May 2011.
  2. ↑ URL: http://johnsarm.net/Trisomy%2013%20%28Patau%29.htm. Accessed on: 16 May 2011.
  3. ↑ URL: http://dictionary.reference.com/browse/Holoprosencephaly. Accessed on: 16 May 2011.
  4. ↑ URL: http://dictionary.reference.com/browse/Aplasia+cutis+congenita. Accessed on: 16 May 2011.
  5. ↑ URL: http://dictionary.reference.com/browse/polydactyl. Accessed on: 16 May 2011.
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