Patau syndrome: Difference between revisions
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=== Life expectancy | === Life expectancy === | ||
45% of those born with Patau Syndrome die with one month and 70% within the first 6 <ref>http://emedicine.medscape.com/article/947706-overview</ref>. The median survival age for patient is about 2.5 days in the United States<ref>http://syndrome.org/patau-syndrome/</ref>. | Patau syndrome may affect the development of the baby in the womb and can result miscarriage / stillbirth<ref>https://www.nhs.uk/conditions/pataus-syndrome/</ref>. | ||
45% of those born with Patau Syndrome die with one month and 70% within the first 6 <ref>http://emedicine.medscape.com/article/947706-overview</ref>, while 90% die within their first year. The median survival age for patient is about 2.5 days in the United States<ref>http://syndrome.org/patau-syndrome/</ref>. | |||
About 5-10% of babies with partial or mosaic Patau Syndome can live for over a year. | |||
=== References === | === References === | ||
<references /><br> | <references /><br> | ||
Revision as of 17:54, 4 December 2017
Patau Syndrome /ˈpætaʊ/ 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
Patau syndrome may affect the development of the baby in the womb and can result miscarriage / stillbirth[3].
45% of those born with Patau Syndrome die with one month and 70% within the first 6 [4], while 90% die within their first year. The median survival age for patient is about 2.5 days in the United States[5].
About 5-10% of babies with partial or mosaic Patau Syndome can live for over a year.