Patau syndrome: Difference between revisions
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Patau Syndrome is also known as [https://bms.ncl.ac.uk/wiki/index.php/Trisomy Trisomy] 13 as it is caused my an extra [https://bms.ncl.ac.uk/wiki/index.php/Chromosome chromosome] 13. This is similar to the more well-known [https://bms.ncl.ac.uk/wiki/index.php/Down%27s_syndrome Down's syndrome], except for that, the trisomy occurs on chromosome 21. Patau's is the least common non-lethal trisomies, affectin 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) | Patau Syndrome is also known as [https://bms.ncl.ac.uk/wiki/index.php/Trisomy Trisomy] 13 as it is caused my an extra [https://bms.ncl.ac.uk/wiki/index.php/Chromosome chromosome] 13. This is similar to the more well-known [https://bms.ncl.ac.uk/wiki/index.php/Down%27s_syndrome Down's syndrome], except for that, the trisomy occurs on chromosome 21. Patau's is the least common non-lethal trisomies, affectin 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) | ||
Symptoms: | Symptoms: | ||
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*Microcephaly (small head size) | *Microcephaly (small head size) | ||
*Microphthalmia (small eyes) | *Microphthalmia (small eyes) | ||
*Congenital heart defect (affects around 80%) | *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. | |||
<br> | <br> | ||
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<references />http://emedicine.medscape.com/article/947706-overview | <references />http://emedicine.medscape.com/article/947706-overview | ||
<references />http://www.lucinafoundation.org/birthdefects-trisomy13.html | <references />http://www.lucinafoundation.org/birthdefects-trisomy13.html | ||
<references />http://www.trisomy.org/resources/soft-publications/trisomy-13-facts/ | <references />http://www.trisomy.org/resources/soft-publications/trisomy-13-facts/ | ||
Revision as of 19:07, 1 December 2011
Patau Syndrome is also known as Trisomy 13 as it is caused my an extra chromosome 13. This is similar to the more well-known Down's syndrome, except for that, the trisomy occurs on chromosome 21. Patau's is the least common non-lethal trisomies, affectin 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)
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.
http://emedicine.medscape.com/article/947706-overview
http://www.lucinafoundation.org/birthdefects-trisomy13.html
http://www.trisomy.org/resources/soft-publications/trisomy-13-facts/