Article
Expanded Prader-Willi Syndrome due to an Unbalanced de novo Translocation t(14;15): Report and Review of the Literature.
Cytogenetic and genome research - 1 Jan 2019
Xefteris Anastasios, Sekerli Eleni, Arampatzi Antonia, Charisiou Sofia, Oikonomidou Eirini, Efstathiou Georgios, Peroulis Nikolaos, Malamidou Aggeliki, Tsoulou-Panidou Eleni, Agakidou Eleni, Sarafidis Kosmas, Psarakis Antonios, Kataras Thomas, Daskalakis Georgios
Abstract excerpt
In the present study, we report a case of a female infant with a de novo unbalanced t(14;15) translocation resulting in a 14-Mb deletion of the 15q11.1q14 region. The deletion includes the 15q11.2q13 Prader-Willi syndrome (PWS) critical region, while no known deleted genes are found in the 14qter region. According to literature review, patients with similar or larger deletions in the 15q region exhibit an...
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