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With respect to facial features, duplication of 9pter-p11 is associated with milder dysmorphia, whereas duplication of 9p21.1-q22-32 is associated with more severe craniofacial features [ 12].
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Through the assembly of many case studies, more general features of duplication and evolutionary processes that retain duplicates should emerge.
For the groups I, II and III the hypothesis of a common evolutionary origin through duplications of a single ancestral gene can be put forward on the basis of their shared structural features, these duplication events would have occurred in the common progenitor of land plants (streptophytes).
In addition, they show some lamprey-specific features, including duplication and structural (but not functional) changes in the intronic/regulatory sequences.
Our interpretation features a duplication between PLG 1 and PLG 4 and an inversion within PLG 10; it is therefore fully in line with earlier inferences.
Case 2 features a duplication of 3q and both cases harbour a deletion in 7q (Fig. 2), which in both cases covers the 7q32 region previously described in SMZL [ 4, 6].
Complementarity is not a basic concept, but is in fact a property of a solution that arises from the requirements of comprehensiveness and efficiency as these two concepts require covering all features without duplication of effort.
WRD-B corresponds roughly to the C-terminal half of segment S2, and segment S2* (featuring a duplication within antigen Pf332) is in fact the first of the two WRD-B copies found within this protein.
For common, relatively common and rare CNV regions, we looked into the association of these regions and the flanking regions (up to 10 000 bp from the CNV boundaries) with sequence features: segmental duplications, genes and repetitive elements (Table 4).
Nevertheless, the deletion and duplication features were still detected with confirmation of homozygote and AAB/ABB genotypes respectively shown for the same SNPs.
This can for a large part be explained by inherent duplication features of indels.
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