Patau syndrome

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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 translocation or mosai.cism

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%)



http://emedicine.medscape.com/article/947706-overview

http://www.trisomy.org/resources/soft-publications/trisomy-13-facts/