Patau syndrome
Definition:
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.
References:
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[1]. Patrícia Petry, et al. Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil. Am J Med Genet A. 2013 Jun;161A(6):1278-83. [Content Brief]
[2]. Sherina Peroos, et al. Longevity and Patau syndrome: what determines survival?. BMJ Case Rep. 2012 Dec 6;2012:bcr0620114381. [Content Brief]
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