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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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Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2010
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On-line přístup: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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