KEGG   DISEASE: パトー症候群
エントリ  
H01562                                                             

名称    
パトー症候群;
13 トリソミー
概要    
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.
カテゴリ  
染色体異常
階層分類  
ヒト疾患 [BR:jp08402]
 その他の先天性異常症
  染色体異常
   H01562  パトー症候群
ICD-11 による疾患分類 [BR:jp08403]
 20 発達異常
  遺伝子変異を除く染色体異常
   LD40  常染色体の完全なトリソミー
    H01562  パトー症候群
リンク   
ICD-11: LD40.1
ICD-10: Q91
MeSH: C536305
文献    
  著者
Peroos S, Forsythe E, Pugh JH, Arthur-Farraj P, Hodes D
  タイトル
Longevity and Patau syndrome: what determines survival?
  雑誌
BMJ Case Rep 2012:bcr0620114381 (2012)
DOI:10.1136/bcr-06-2011-4381
文献    
  著者
Petry P, Polli JB, Mattos VF, Rosa RC, Zen PR, Graziadio C, Paskulin GA, Rosa RF
  タイトル
Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil.
  雑誌
Am J Med Genet A 161A:1278-83 (2013)
DOI:10.1002/ajmg.a.35863

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