Trisomy 13 (Patau Syndrome)

Trisomy 13 occurs in 1 of 10,000 births. Not many children survive as the malformations are serious.

Signs and symptoms

Facial deformities are common with a central cleft palate and ocular hypotelorism (close together eyes). The ears are low set and deformed. The skull is small and there are cerebral malformations, one particular severe one is called holoprosencephaly. These babies also have often multiple internal organ malformations and congenital heart disease.

Polydactyly (extra fingers) is also common.

Prognosis

Due to the multiple malformations 80% of babies with trisomy 13 do not live beyond 1 month. Only about 15% will live beyond 1 year. Feeding problems, respiratory infections and mental retardation are the major problems.

Home page

Chromosomal Abnormalities

Disclaimer:

This outline is only a teaching aid to patients and should stimulate you to ask the right questions when seeing your doctor. However, the responsibility of treatment stays in the hands of your doctor and you.

References:

2. http://ghr.nlm.nih.gov/condition=trisomy13

Last Modified: April 14, 2012