Patau syndrome

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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].

There is no treatment for Patau's syndrome.

Symptoms

These can vary greatly, however almost all suffer from severe mental deficiency.

Physical:

Life expectancy

Patau syndrome may affect the development of the baby in the womb and can result in 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 the patient is about 2.5 days in the United States[5].

About 5-10% of babies with partial or mosaic Patau Syndrome can live for over a year.

References

  1. http://www.lucinafoundation.org/birthdefects-trisomy13.html
  2. http://www.trisomy.org/resources/soft-publications/trisomy-13-facts/
  3. https://www.nhs.uk/conditions/pataus-syndrome/
  4. http://emedicine.medscape.com/article/947706-overview
  5. http://syndrome.org/patau-syndrome/
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