Skip to main content
Fig. 1 | Genome Medicine

Fig. 1

From: Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome

Fig. 1

Triplication followed by ROH shows DUP-TRP/INV-DUP pattern. a Agilent aCGH (V10.1) plot of chromosome 14q23.2q23.3 region harboring a 2.2-Mb triplication (TRP; log2 ratio 1). b Agilent tiling high-density aCGH revealed a triplication (TRP; blue box) flanked by small duplications (DUP; red boxes) at both centromeric (Jct2) and telomeric junctions (Jct1) (c). d Color-matched sequence alignment of Jct1 and Jct2. Sequencing data of long-range PCR product was obtained by standard Sanger. Structure is now defined as DUP-TRP/INV-DUP. Genomic reference segments are displayed in blue (PROX, proximal) and red (DIST, distal). Strand orientation is indicated in parentheses. Microhomology at the junction is represented in black. e Read depth coverage plot of 17.7  Mb segment of 14q (chr14: 54,179,300-71,874,900) that includes the DUP-TRP/INV-DUP region. Normalized read depth coverage confirms the relative copy-number differences along the CGR consistent with a triplication (31.8/15.8 = 2) flanked by duplications (DUP1 = 20.1/15.8 = 1.3; DUP2 = 18.3/15.8 = 1.2). Y-axis: read depth coverage; X-axis: 100 bp bins at 14q. Genomic coordinates are in hg19

Back to article page