Difference between revisions of "Trisomy 13"
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*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> | *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> | *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]]. | ||
*Rocker bottom feet. | *Rocker bottom feet. | ||
Revision as of 03:20, 6 May 2012
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.
- 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
- Trisomy 18 (Edwards syndrome).
- Trisomy 21 (Down syndrome).
- Chromosomal anomalies.
- Stillbirth.
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.