Trisomy 13

What is trisomy 13 (Patau syndrome)?

Individuals with trisomy 13 have an extra copy of chromosome 13 in the cells of the body. This extra material causes changes in the development of the embryo and fetus, resulting in birth defects and severe intellectual disability. Infants have a pattern of physical features that includes small heads and eye abnormalities, cleft lip and/or cleft palate and congenital heart defects. Median survival is 7-10 days and 90% do not survive the first year of life. Increased mortality is related to difficulties with breathing, and feeding problems can occur.

How common is trisomy 13?

The condition occurs in about 1 in 10,000 live born infants. The condition is not related to race, nationality, religion or socioeconomic status. There is usually no family history of the condition.

How is trisomy 13 treated?

Treatment for trisomy 13 is supportive, meaning that the condition cannot be cured, and treatments are directed at managing complications. Common treatment measures include nutritional support, treatment of infections. Breathing difficulties and pneumonia are common causes of death.