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Segmental duplications mediate novel, clinically relevant chromosome rearrangements

Copy number studies have led to an explosion in the discovery of new segmental duplication-mediated deletions and duplications. We have analyzed copy number changes in 2419 patients referred for clinical array comparative genomic hybridization studies. Twenty-three percent of the abnormal copy numbe...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Rudd, M. Katharine, Keene, Julia, Bunke, Brian, Kaminsky, Erin B., Adam, Margaret P., Mulle, Jennifer G., Ledbetter, David H., Martin, Christa L.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2009
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2714723/
https://ncbi.nlm.nih.gov/pubmed/19443486
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddp233
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