Difference between revisions of "Trisomy 13"

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*Polydactyly - more than the normal number of digits.<ref>URL: [http://dictionary.reference.com/browse/polydactyl http://dictionary.reference.com/browse/polydactyl]. Accessed on: 16 May 2011.</ref>
*Polydactyly - more than the normal number of digits.<ref>URL: [http://dictionary.reference.com/browse/polydactyl http://dictionary.reference.com/browse/polydactyl]. Accessed on: 16 May 2011.</ref>
*Horseshoe kidney.
*Horseshoe kidney.
Images:
*[http://commons.wikimedia.org/wiki/File:Aplasia_cutis_congenita.jpg Aplasia cutis congenita (WC)].


===A terrible mnemonic===
===A terrible mnemonic===
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*Abnormal heart (cardiac defects).
*Abnormal heart (cardiac defects).
*Urinary system abnormalities (horseshoe kidney).
*Urinary system abnormalities (horseshoe kidney).
Images:
*[http://commons.wikimedia.org/wiki/File:Aplasia_cutis_congenita.jpg Aplasia cutis congenita (WC)].


==See also==
==See also==

Revision as of 15:19, 16 May 2011

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.

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.