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Figure 3 | Molecular Cytogenetics

Figure 3

From: 8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families

Figure 3

Annotated screenshot of 5.7 Mb of band 8p23.1 (UCSC Genome Browser on Human Mar. 2006 Assembly (hg18)). From bottom to top: the Segmental Duplications that contain the Olfactory Receptor and Defensin Repeats (ORDRs) are labelled REPD and REPP; the ~3.75 Mb core 8p23.1 duplication syndrome interval between REPD and REPP [5] and the ~2.5 Mb alternative CHD region proposed by Giglio et al [24] are illustrated by annotated boxes; the multiple copy number variations of REPD and REPP in the Database of Genome Variants (DGV) http://projects.tcag.ca/variation/ is indicated by the red, blue and green lines and the common polymorphic inversion between REPD and REPP by the purple lines; OMIM Morbid genes appear as red boxes and other OMIM genes as blue boxes (or lines); acronyms for the OMIM genes specifically mentioned in the text have been added above in corresponding colours. Note that the DGV does not contain any CNVs that match the 8p23.1 duplication syndrome region.

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Molecular Cytogenetics

ISSN: 1755-8166