Patau Syndrome

From The School of Biomedical Sciences Wiki
Jump to: navigation, search

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

  1. "http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002625/", Trisomy 13, PubMed Health, 04-08-2011. Retrieved 17-10-2012.
  2. http://www.aboutkidshealth.ca/EN/HEALTHAZ/CONDITIONSANDDISEASES/GENETICDISORDERS/Pages/trisomy-13-patau-syndrome.aspx
  3. http://www.geneticseducation.nhs.uk/genetic-conditions-54/691-patau-syndrome-new
Personal tools
Namespaces
Variants
Actions
Navigation
Toolbox