KEGG   DISEASE: Patau syndromeHelp
Entry
H01562                      Disease                                

Name
Patau syndrome;
Trisomy 13
Description
Patau syndrome, also known as trisomy 13, is a chromosomal disorder characterized by the severe clinical picture of multiple congenital anomalies. It is one of the least common autosomal trisomies among live births with an estimated prevalence of 1:12000 - 1:29000 in newborns. The major clinical findings include cryptorchidism, abnormal auricles, congenital heart defects, polydactyly, microphthalmia, and micrognathia. Median survival time for patients with trisomy 13 is between 7 and 10 days and it is reported that between 86% and 91% of live-born patients with Patau syndrome do not survive beyond 1 year of life. Survival beyond the first year has been associated with mosaicism.
Category
Chromosomal abnormality
Brite
Human diseases [BR:br08402]
 Other congenital disorders
  Chromosomal abnormalities
   H01562  Patau syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Chromosomal anomalies, excluding gene mutations
   LD40  Complete trisomies of the autosomes
    H01562  Patau syndrome
BRITE hierarchy
Other DBs
ICD-11: LD40.1
ICD-10: Q91
MeSH: C536305
Reference
  Authors
Peroos S, Forsythe E, Pugh JH, Arthur-Farraj P, Hodes D
  Title
Longevity and Patau syndrome: what determines survival?
  Journal
BMJ Case Rep 2012:bcr0620114381 (2012)
DOI:10.1136/bcr-06-2011-4381
Reference
  Authors
Petry P, Polli JB, Mattos VF, Rosa RC, Zen PR, Graziadio C, Paskulin GA, Rosa RF
  Title
Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil.
  Journal
Am J Med Genet A 161A:1278-83 (2013)
DOI:10.1002/ajmg.a.35863

» Japanese version

DBGET integrated database retrieval system