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A familial inverted duplication/deletion of 2p25.1–25.3 provides new clues on the genesis of inverted duplications

We studied a family in which the same 10 Mb inverted duplication of 2p25.3–p25.1 segregates in two children and their father, all showing a trisomy phenotype. As FISH analysis demonstrated that the duplication was inverted, we suspected that a contiguous terminal deletion was also present, according...

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Detalhes bibliográficos
Main Authors: Bonaglia, Maria Clara, Giorda, Roberto, Massagli, Angelo, Galluzzi, Rita, Ciccone, Roberto, Zuffardi, Orsetta
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2009
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2986066/
https://ncbi.nlm.nih.gov/pubmed/18813332
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.160
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