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==
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'''.
*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>
**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>

Revision as of 15:00, 16 May 2011

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

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.

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.