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Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

Mosaic aneuploidy and uniparental disomy (UPD) arise from mitotic or meiotic events. There are differences between these mechanisms in terms of (i) impact on embryonic development; (ii) co-occurrence of mosaic trisomy and UPD and (iii) potential recurrence risks. We used a genome-wide single nucleot...

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Autores principales: Conlin, Laura K., Thiel, Brian D., Bonnemann, Carsten G., Medne, Livija, Ernst, Linda M., Zackai, Elaine H., Deardorff, Matthew A., Krantz, Ian D., Hakonarson, Hakon, Spinner, Nancy B.
Formato: Artigo
Lenguaje:Inglês
Publicado: Oxford University Press 2010
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3146011/
https://ncbi.nlm.nih.gov/pubmed/20053666
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddq003
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