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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Main Authors: Rossi, Elena, Giorda, Roberto, Bonaglia, Maria Clara, Candia, Stefania Di, Grechi, Elena, Franzese, Adriana, Soli, Fiorenza, Rivieri, Francesca, Patricelli, Maria Grazia, Saccilotto, Donatella, Bonfante, Aldo, Giglio, Sabrina, Beri, Silvana, Rocchi, Mariano, Zuffardi, Orsetta
Formáid: Artigo
Teanga:Inglês
Foilsithe: Public Library of Science 2012
Ábhair:
Research Article
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3375265/
https://ncbi.nlm.nih.gov/pubmed/22720067
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0039180
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