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Figure 3 | Molecular Cytogenetics

Figure 3

From: Partial tetrasomy of the proximal long arm of chromosome 15 in two patients: the significance of the gene dosage in terms of phenotype

Figure 3

Ensembl results of duplicated regions and the concerned genes. (http://grch37.ensembl.org/Homo_sapiens/Location/Overview?r=15%3A22765628-32861626) Red line shows the duplicated 15q11q13 region of Patient 1. Green lines show the duplicated regions of Patient 2. The upper part of the figure illustrates the affected genes. (Red: protein coding; Yellow: merged Ensembl and Havana genes; Purple: RNA genes) The yellow circles indicate the genes might be involved in growth regulation. The brown circles indicate the genes might be involved in GABA mediated antiepileptic drug therapy. The blue circle indicates the KLF13 gene, which might be associated to cardiac malformations. The claret circle indicates the CHRNA7 gene, which might be associated with neuropsychiatric phenotypes

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Molecular Cytogenetics

ISSN: 1755-8166