Patau syndrome - Definition

Patau syndrome, also known as Trisomy 13, is a chromosomal aberration, a disease in which a patient has an additional chromosome 13.

Symptoms include:

• low birth weight
• heart defects
• structural eye defects - Micropthalmia (abnormal smallness of one or both eyes)
• cleft palate or hare lip
• meningomyelocele (a spinal defect)
• omphalocele (abdominal defect)
• abnormal genitalia
• low set ears
• abnormal palm pattern
• scalp defects
• extra digits - polydactyly
• Microcephaly ("small head")
• overlapping of fingers over thumb.

Most babies suffering from Patau syndrome will not survive infancy; those who do will suffer from a learning disability.

Patients with the so-called mosaic form of Patau syndrome have only some of their cells carrying the additional copy of chromosome 13. The severity of the disease depends on the ratio of affected to unaffected cells.

External links

• Patau's Syndrome (http://www.psychejam.com/patau's_syndrome.htm)
• BBC Health - Ask the Doctor - Patau's Syndrome (http://www.bbc.co.uk/health/ask_doctor/pataus_syndrome.shtml)
• Patau's syndrome (http://www.chclibrary.org/micromed/00060060.html)