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Whole genome analysis using SNP arrays on peripheral blood derived patient DNA. An Illumina 610 quad array indicated a ~5 Mb gain of the pericentromeric region of 18q10q11.2(16,100,001-21,123,302). The upper panel shows the array results for the whole genome, while the lower panel shows the results obtained for chromosome 18. The green bar and arrow indicate the amplified region. On the X-axis the chromosomes and chromosomal region are indicated. The upper Y-axis shows the Log2 R ratio and the lower Y-axis indicates the B allele frequency.
To determine the chromosomal breakpoints and to characterize the
ring chromosome further whole genome analysis using SNP arrays was
performed on peripheral blood derived DNA (Figure 3).
van der Veken, Lars T; Dieleman, Marianne MJ; Douben, Hannie; van de Brug, Judith C; van de Graaf, Raoul; Hoogeboom, A Jeannette M; Poddighe, Pino J; de Klein, AnneliesJournal: Molecular Cytogenetics
Issue 1DOI: 10.1186/1755-8166-3-13Published: 2010-12-01Institution(s):
Erasmus University Medical Center
This image is from the article titled "Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies"
(from Molecular Cytogenetics) which is copyrighted by van der Veken et al. For more information on the
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