KEGG   DISEASE: Patau syndrome
H01562                      Disease                                
Patau syndrome;
Trisomy 13
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.
Chromosomal abnormality
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
Other DBs
ICD-11: LD40.1
ICD-10: Q91
MeSH: C536305
Peroos S, Forsythe E, Pugh JH, Arthur-Farraj P, Hodes D
Longevity and Patau syndrome: what determines survival?
BMJ Case Rep 2012:bcr0620114381 (2012)
Petry P, Polli JB, Mattos VF, Rosa RC, Zen PR, Graziadio C, Paskulin GA, Rosa RF
Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil.
Am J Med Genet A 161A:1278-83 (2013)

» Japanese version

DBGET integrated database retrieval system