Difference between revisions of "Trisomy 13"

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


==Features==
==Characteristics==
*Midface abnormality - key feature.
Features:<ref>Sherman, C. Recent advances in pathology (lecture). 9 May 2011.</ref><ref>URL: [http://johnsarm.net/Trisomy%2013%20%28Patau%29.htm http://johnsarm.net/Trisomy%2013%20%28Patau%29.htm]. Accessed on: 16 May 2011.</ref>
*Midface abnormality - '''key feature'''.
**An extreme example: holoprosencephaly - failure of the forebrain to divide into hemispheres.<ref>URL: [http://dictionary.reference.com/browse/Holoprosencephaly http://dictionary.reference.com/browse/Holoprosencephaly]. Accessed on: 16 May 2011.</ref>
*Cardiac abnormalities.
*Aplasia cutis congenita ([[AKA]] aplasia cutis) - congenital absence of hair; usu. on the scalp.<ref>URL: [http://dictionary.reference.com/browse/Aplasia+cutis+congenita http://dictionary.reference.com/browse/Aplasia+cutis+congenita]. 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]].
*Rocker bottom feet.
 
<!-- ====Images====
<gallery>
Image:Aplasia_cutis_congenita.jpg |Aplasia cutis congenita. (WC)
Image:Patauhand.PNG |Polydactyly in trisomy 13. (WC)
</gallery> -->
 
===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==
*[[Trisomy 18]] (Edwards syndrome).
*[[Trisomy 21]] (Down syndrome).
*[[Chromosomal anomalies]].
*[[Stillbirth]].
 
==References==
{{Reflist|2}}


[[Category:Syndromes]]
[[Category:Syndromes]]

Latest revision as of 22:45, 21 June 2015

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.


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.