Patau Syndrome: Difference between revisions
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Patau Syndrome is a [[Trisomy|trisomy]] of [[Chromosome 13|chromosome 13]] due to a [[Nondisjuction|nondisjunction]] during [[Meiosis|meiosis]]. Patau Syndrome can also result from a [[Translocation|Robertsonian translocation]], a section of chromosome 13 attaches to another [[Chromosome|chromosome]]. This results in [[Cell|cell]] containing 2 intact copies of chromosome 13 and an extra partial copy. Patau Syndrome has a prevalence of around 1 in every 10,000 live births<ref>"http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002625/", Trisomy 13, PubMed Health, 04-08-2011. Retrieved 17-10-2012.</ref> . | Patau Syndrome is a [[Trisomy|trisomy]] of [[Chromosome 13|chromosome 13]] due to a [[Nondisjuction|nondisjunction]] during [[Meiosis|meiosis]]. Patau Syndrome can also result from a [[Translocation|Robertsonian translocation]], a section of chromosome 13 attaches to another [[Chromosome|chromosome]]. This results in [[Cell|cell]] containing 2 intact copies of chromosome 13 and an extra partial copy. Patau Syndrome has a prevalence of around 1 in every 10,000 live births<ref>"http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002625/", Trisomy 13, PubMed Health, 04-08-2011. Retrieved 17-10-2012.</ref> . | ||
=== | === Signs and Symptoms of Trisomy 13 === | ||
Most fetuses with Patau's syndrome are miscarried. congenital malformations such as [[ | Most fetuses with Patau's syndrome are miscarried. congenital malformations such as [[Holoprosencephaly]] whereby the forebrain fails to develop into two hemispheres, are typical. Infants ususally have a normal birth weight, a tiny head and a tilted forehead (due to holoprosencephaly) <ref>http://www.aboutkidshealth.ca/EN/HEALTHAZ/CONDITIONSANDDISEASES/GENETICDISORDERS/Pages/trisomy-13-patau-syndrome.aspx</ref>. Other clinical features include microphthalmia, cleft lip and palate and [[Polydactyly|polydactyly]]. All of these malformations have a 60 to 70% chance each of occurring in babies born with this condition. Other malformations include cardiac and kidney malformations. Due to [[Mosaicism]], children born with Patau's syndrome don't live for long <ref>http://www.geneticseducation.nhs.uk/genetic-conditions-54/691-patau-syndrome-new</ref>. | ||
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Latest revision as of 19:02, 19 October 2017
Patau Syndrome is a trisomy of chromosome 13 due to a nondisjunction during meiosis. Patau Syndrome can also result from a Robertsonian translocation, a section of chromosome 13 attaches to another chromosome. This results in cell containing 2 intact copies of chromosome 13 and an extra partial copy. Patau Syndrome has a prevalence of around 1 in every 10,000 live births[1] .
Signs and Symptoms of Trisomy 13
Most fetuses with Patau's syndrome are miscarried. congenital malformations such as Holoprosencephaly whereby the forebrain fails to develop into two hemispheres, are typical. Infants ususally have a normal birth weight, a tiny head and a tilted forehead (due to holoprosencephaly) [2]. Other clinical features include microphthalmia, cleft lip and palate and polydactyly. All of these malformations have a 60 to 70% chance each of occurring in babies born with this condition. Other malformations include cardiac and kidney malformations. Due to Mosaicism, children born with Patau's syndrome don't live for long [3].
References
- ↑ "http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002625/", Trisomy 13, PubMed Health, 04-08-2011. Retrieved 17-10-2012.
- ↑ http://www.aboutkidshealth.ca/EN/HEALTHAZ/CONDITIONSANDDISEASES/GENETICDISORDERS/Pages/trisomy-13-patau-syndrome.aspx
- ↑ http://www.geneticseducation.nhs.uk/genetic-conditions-54/691-patau-syndrome-new