Patau syndrome

Dr Jeremy Jones and A.Prof Frank Gaillard et al.

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

This along with Down syndrome (T21) and Edward syndrome (T18) are the only three trisomies to be compatible with extrauterine life. However, few infants live more than a few days. 

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

Three forms are known 

  • free trisomy 13: classical form
  • translocation trisomy 13
  • mosaic trisomy 13

Described features are protean and include

  • increased maternal age
  • reduced maternal serum alpha-feto protein (MSAFP)
  • reduced maternal beta HCG
  • reduced PAPP-A

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 individuals not surviving beyond in utero or soon after birth. Management is mainly supportive.

Clinically, individuals with the Meckel-Gruber syndrome may carry some features similar to that of trisomy 13.

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Article information

rID: 1849
Section: Syndromes
Synonyms or Alternate Spellings:
  • Patau's syndrome
  • Trisomy 13

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Cases and figures

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    Case 1: polydactyly in Patau syndrome
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