patau syndrome

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Patau Syndrome. A picture demonstrating polydactyly, or extra fingers, a common abnormality in Patau syndrome. Cayden Phipps 3A- Abrams. Description. Patau syndrome - also known as trisomy 13 and trisomy D. Affects about 1 in 12,000 live births. - PowerPoint PPT Presentation

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  • Patau SyndromeCayden Phipps3A- AbramsA picture demonstrating polydactyly, or extra fingers, a common abnormality in Patau syndrome.

    Cayden Phipps: 3A - Abrams

  • DescriptionPatau syndrome - also known as trisomy 13 and trisomy D.Affects about 1 in 12,000 live births.More than 80% of infants with Patau syndrome die within their first year of life.Cayden Phipps: 3A - Abrams*The Simian line, or an abnormal palm pattern that is usually a symptom of Patau syndrome.

    Cayden Phipps: 3A - Abrams

  • HistoryPatau syndrome, or Trisomy 13, as it was first called, was first observed by Thomas Bartholin in 1657. However, the actual genetic and chromosomal-related parts of it were discovered by Dr. Klaus Patau in 1960, hence the name Patau syndrome.Cayden Phipps: 3A - Abrams*

    Cayden Phipps: 3A - Abrams

  • CauseEach cell in the body has two copies of chromosome 13, one from each parent. However, with Patau syndrome, the cells have three copies of chromosome 13 instead of the normal two, as well as extra material from the extra chromosome attached to another chromosome, resulting in changes. Most cases are not inherited, but occur as random events during the formation of gametes. An error in meiosis may result in gametes with an abnormal number of chromosomes. One way this will occur is with the gamete having an extra chromosome 13. Cayden Phipps: 3A - Abrams*As you can see here, there are three chromosome 13s. Normally, there would be two, one from each parents gamete, but a mutation/error in cell division gives the gamete an abnormal number of chromosomes.

    Cayden Phipps: 3A - Abrams

  • Mosaic PatauA small percentage of cases occur when only some of the bodys cells have an extra copy of chromosome 13, resulting in a mixed population of cells with differing numbers of chromosomes. This is called Mosaic Patau.Cayden Phipps: 3A - Abrams*A baby with a cleft palate, a common abnormality of Patau syndrome.

    Cayden Phipps: 3A - Abrams

  • Common ProblemsNervous system problems:Mental and motor disabilities similar to that of autismMicrocephaly, or a less rounded brain resulting in more of an egg-shaped skullEye structure defects:Microphthalmia, or crossed eyes (may involve one eye or both)CataractsSensory Nystagmus, or involuntart twitching of the eyeOptic nerve hypoplasia, or the underdevelopment of the optic nerveCayden Phipps: 3A - Abrams*Sensory nystagmusMicrophthalmiaMicrocephaly

    Cayden Phipps: 3A - Abrams

  • Common Problems cont.Muscular and skin problems:Polydactyly, or extra fingers/toesLow-down earsProminent heels and deformed feet, called rocker-bottom feetStrange palm patterns, commonly called the Simian lineOverlapping of the fingers over thumbCleft palateCayden Phipps: 3A - Abrams*PolydactylyThe Simian lineRocker-bottom feet

    Cayden Phipps: 3A - Abrams

  • Common Problems, cont.Vascular Problems:Kidney problemsHeart defects such as ventricular septal defectCayden Phipps: 3A - Abrams*Kidney ProblemThe disease shown right is called Polycystic kidney disease (PKD).This is a disorder in which clumps of cysts develop within your kidneys. Cysts are small round sacs containing water-like fluid.

    Cayden Phipps: 3A - Abrams

  • TreatmentThere is no treatment to address the condition. However, there are procedures to sustain life for a bit.Most times, surgery is required to fix defects to allow the child to survive for as long as possible. Since most infants with Patau syndrome die within the first year of life, special management/procedures are necessary; this is very complex and carefully laid out. Many children have trouble surviving the first few days or weeks of life due to severe neurologic and vascular problems. Cayden Phipps: 3A - Abrams*

    Cayden Phipps: 3A - Abrams

  • Bibliography/Credits Best, Robert. Patau Syndrome. Medscape Reference Editorial Board, 2009. (http://emedicine.medscape.com/article/947706-overview#a0101, accessed on 12/2/11)

    Johnson, Paul. The Gale Encyclopedia of Childrens Health: Infancy through Adolescence. Detroit: Gale, 2006.

    Manske, Magnus. Patau Syndrome. Wikipedia, the Free Encyclopedia, 2004. (http://en.wikipedia.org/wiki/Patau_syndrome, accessed on 12/1/11)

    Cayden Phipps: 3A AbramsA frog ate my toe*All work done by Cayden PhippsThats all there is to say.

    Cayden Phipps: 3A - Abrams

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