Research Letter Patau Syndrome With a Long Survival (146 Months): A Clinical Report and Review of Literature

American Journal of Medical Genetics 140A:92 – 93 (2006) 

Trisomy 13 is a clinically severe condition first described by Patau in 1960 [Smith et al., 1960]. The frequency of this syndrome is 1:3,000 live births [Tunca et al., 2001]. It is the third most frequent trisomy among live births [Phatak et al., 2004] after trisomy 21 (Down syndrome) and trisomy 18 (Edwards syndrome). Eighty-five percent of liveborns do not survive beyond 1 year of life, and most die before the age of 6 months [Duarte et al., 2004]. Trisomy 13 is characterized by multiple malformations of the cardiac, central nervous, and urogenital systems [Phatak et al., 2004]. There have only been five cases of patients with trisomy 13 previously reported, who had survived past the first decade [Redheendran et al., 1981; Singh, 1990; Zoll et al., 1993; Tunca et al., 2001]. In this report, we present a newborn with trisomy 13, the fourth longest described in the literature and the longest survival (146 months) reported in Greece. (Keep reading it…)

Anúncios

Deixe uma Resposta

Preencha os seus detalhes abaixo ou clique num ícone para iniciar sessão:

Logótipo da WordPress.com

Está a comentar usando a sua conta WordPress.com Terminar Sessão / Alterar )

Imagem do Twitter

Está a comentar usando a sua conta Twitter Terminar Sessão / Alterar )

Facebook photo

Está a comentar usando a sua conta Facebook Terminar Sessão / Alterar )

Google+ photo

Está a comentar usando a sua conta Google+ Terminar Sessão / Alterar )

Connecting to %s