Patau syndrome: Difference between revisions
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Patau Syndrome is also known as [[Trisomy 13|Trisomy 13]] as it is caused my an extra [[ | Patau Syndrome is also known as [[Trisomy 13|Trisomy 13]] as it is caused my an extra [[Chromosome 13|chromosome 13]]. This is similar to the more well-known [[Down's syndrome|Down's syndrome]], except for that, the [[Trisomy|trisomy]] occurs on [[Chromosome 21|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)<ref>http://www.lucinafoundation.org/birthdefects-trisomy13.html</ref><ref>http://www.trisomy.org/resources/soft-publications/trisomy-13-facts/</ref>. | ||
=== Symptoms | === Symptoms === | ||
These can vary greatly, however almost all suffer from severe mental deficiency. | These can vary greatly, however almost all suffer from severe mental deficiency. | ||
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*Seizures | *Seizures | ||
=== 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>. | 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>. | ||
Revision as of 21:11, 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)[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].