Patau syndrome

Last revised by Yaïr Glick on 31 Oct 2022

Patau syndrome (also known as trisomy 13) is considered the 3rd commonest autosomal trisomy.

Patau syndrome, Down syndrome (trisomy 21), and Edwards syndrome (trisomy 18) are the only three trisomies compatible with extrauterine life. However, few infants with either Patau or Edwards syndrome live more than a few days after birth.

The estimated incidence is approximately 1:6000. There may be an increased incidence with advanced maternal age.

Described features are protean and include:

Three forms are known 

  • free trisomy 13: classical form

  • translocation trisomy 13

  • mosaic trisomy 13

Many of the individual clinical features listed above may be seen on ultrasound. Other general features include:

The syndrome carries a poor prognosis, with most cases ending in fetal demise or neonatal death. Management is mainly supportive.

Individuals with Meckel-Gruber syndrome may exhibit some clinical features similar to that of trisomy 13.

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