De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)s.

The 15q11-q13 region is characterized by high instability, caused by the presence of several paralogous segmental duplications. Although most mechanisms dealing with cryptic deletions and amplifications have been at least partly characterized, little is known about the rare translocations involving...

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Bibliographic Details
Main Authors: Elena Rossi, Roberto Giorda, Maria Clara Bonaglia, Stefania Di Candia, Elena Grechi, Adriana Franzese, Fiorenza Soli, Francesca Rivieri, Maria Grazia Patricelli, Donatella Saccilotto, Aldo Bonfante, Sabrina Giglio, Silvana Beri, Mariano Rocchi, Orsetta Zuffardi
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2012-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3375265?pdf=render