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. | ||
===Mnemonic=== | |||
A terrible mnemonic ''PATAU'': | |||
*Polydactyly. | |||
*Aplasia cutis. | |||
*Terrible face - midface abnormalities, including cleft left and palate. | |||
*Abnormal heart (cardiac defects). | |||
*Urinary system abnormalities (horseshoe kidney). | |||
Images: | Images: |
Revision as of 15:17, 16 May 2011
Trisomy 13, also known as Patau syndrome, is a relatively common chromosomal abnormality.
Characteristics
- 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.
Mnemonic
A terrible mnemonic PATAU:
- Polydactyly.
- Aplasia cutis.
- Terrible face - midface abnormalities, including cleft left and palate.
- Abnormal heart (cardiac defects).
- Urinary system abnormalities (horseshoe kidney).
Images:
See also
References
- ↑ Sherman, C. Recent advances in pathology (lecture). 9 May 2011.
- ↑ URL: http://johnsarm.net/Trisomy%2013%20%28Patau%29.htm. Accessed on: 16 May 2011.
- ↑ URL: http://dictionary.reference.com/browse/Holoprosencephaly. Accessed on: 16 May 2011.
- ↑ URL: http://dictionary.reference.com/browse/Aplasia+cutis+congenita. Accessed on: 16 May 2011.
- ↑ URL: http://dictionary.reference.com/browse/polydactyl. Accessed on: 16 May 2011.