A familial inverted duplication/deletion of 2p25.1–25.3 provides new clues on the genesis of inverte...
A familial inverted duplication/deletion of 2p25.1–25.3 provides new clues on the genesis of inverted duplications
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Publisher
Cham: Springer International Publishing
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Language
English
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Publisher
Cham: Springer International Publishing
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Scope and Contents
Contents
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 to the classical inv dup del type of rearrangemen...
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Full title
A familial inverted duplication/deletion of 2p25.1–25.3 provides new clues on the genesis of inverted duplications
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2986066
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2986066
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/ejhg.2008.160
