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Case Reports in Genetics
Volume 2011, Article ID 585893, 5 pages
Case Report

A Novel Microduplication in the Neurodevelopmental Gene SRGAP3 That Segregates with Psychotic Illness in the Family of a COS Proband

1Child Psychiatry Branch, National Institute of Mental Health, 10 Center Drive, Building 10/Room 3N202, Bethesda, MD 20892, USA
2Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Room 315, Atlanta, GA 30322, USA

Received 22 June 2011; Accepted 14 July 2011

Academic Editors: C.-W. Cheng, E. Ergul, and D. Steinberger

Copyright © 2011 Nicole K. A. Wilson et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Supplementary Material

In the supplementary materials section we include additional descriptions of the materials and methods, two supplementary figures, and a UCSC Genome Browser compatible BED file containing the precise coordinates of the CNV tracks. In the materials and methods section, we describe details for the spotted microarray analysis, FISH analysis, duplication junction cloning, sequencing of the resulting PCR product, and additional analyses of the resulting transcript. Supplemental Figure 1 includes images generated from the metaphase FISH assay and Supplemental Figure 2 includes the genomic sequence read at the duplication junction. Supplemental Figure 3 includes the CNV coordinates formatted for compatible visualization in the UCSC Genome Browser which was used to produce Figure 3 in the manuscript. Finally, we have included information on the grant used to fund this research.

  1. Supplementary Material