Patau syndrome also known as trisomy 13 and trisomy D. Patau syndrome also known as trisomy 13 and trisomy D

Patau syndrome - also known as trisomy 13 and trisomy D.

• Patau 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.

Patau 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”.

• Patau 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”.

Each 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.

• Each 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.

A small percentage of cases occur when only some of the body’s 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.

• A small percentage of cases occur when only some of the body’s 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.

Nervous system problems:

• Nervous system problems:

• Mental and motor disabilities similar to that of autism

• Microcephaly, or a less rounded brain resulting in more of an egg-shaped skull

• Eye structure defects:

• Microphthalmia, or crossed eyes (may involve one eye or both)
• Cataracts
• Sensory Nystagmus, or involuntart “twitching” of the eye
• Optic nerve hypoplasia, or the underdevelopment of the optic nerve

Muscular and skin problems:

• Muscular and skin problems:

• Polydactyly, or extra fingers/toes

• Low-down ears

• Prominent heels and deformed feet, called ‘rocker-bottom’ feet

• Strange palm patterns, commonly called the Simian line

• Overlapping of the fingers over thumb

• Cleft palate

Vascular Problems:

• Vascular Problems:

• Kidney problems

• Heart defects such as ventricular septal defect

There is no treatment to address the condition. However, there are procedures to sustain life for a bit.

• There 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.

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

• 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 Children’s 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)