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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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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2009
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| Assuntos: | |
| 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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