Patau syndrome: Difference between revisions
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Patau Syndrome is also known as [[Trisomy 13|Trisomy 13]] as it is caused by an extra [[Chromosome 13|chromosome 13]]. This is similar to the more well-known [[Down's syndrome|Down's syndrome]], except | Patau Syndrome is also known as [[Trisomy 13|Trisomy 13]] as it is caused by an extra [[Chromosome 13|chromosome 13]]. This is similar to the more well-known [[Down's syndrome|Down's syndrome]], except that the [[Trisomy|trisomy]] occurs on [[Chromosome 21|chromosome 21. ]][[Chromosome 21|Patau is the least common non-lethal trisomies, affecting 1 in 10,000 live-births. Out of this 80% will have a full trisomy, with the remainder having partial trisomy (due to translocation or mosaicism)]]<ref>http://www.lucinafoundation.org/birthdefects-trisomy13.html</ref><ref>http://www.trisomy.org/resources/soft-publications/trisomy-13-facts/</ref>. | ||
=== Symptoms === | === Symptoms === | ||
Revision as of 17:55, 3 December 2015
Patau Syndrome is also known as Trisomy 13 as it is caused by an extra chromosome 13. This is similar to the more well-known Down's syndrome, except that the trisomy occurs on chromosome 21. Patau is the least common non-lethal trisomies, affecting 1 in 10,000 live-births. Out of this 80% will have a full trisomy, with the remainder having partial trisomy (due to translocation or mosaicism)[1][2].
Symptoms
These can vary greatly, however almost all suffer from severe mental deficiency.
Physical:
- Polydactyly
- Rocker-bottom feet
- Cleft Palate (this occurs in about 60% of those with Patau Syndrome)
- Holoprosencephaly (forebrain in the embryo does not divide into two hemispheres)
- Microcephaly (small head size)
- Microphthalmia (small eyes)
- Congenital heart defect (affects around 80%)
- Seizures
Life expectancy
45% of those born with Patau Syndrome die with one month and 70% within the first 6 [3].