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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. | ||
== | ==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]] | ||