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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Bibliographische Detailangaben
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: Public Library of Science 2012
Schlagworte:
Research Article
Online Zugang: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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