Figure 3
From: Mechanisms of ring chromosome formation, ring instability and clinical consequences
A) Array result for patient VI showing duplication and deletion of 13q, based on SNP genotyping using the Illumina software. The upper panel shows the log R ratio, or intensity of each probe. The lower panel shows the B allele frequency, or genotyping results for each single nucleotide polymorphism (SNP). B) Partial karyotype in G-banding showing the r(13) and its normal homologue. C) FISH with pericentromeric probe showing the r(13) and its homologue. D) Ideogram illustrating the chromosome 13 and showing the BACs probes used for FISH. E) FISH-BAC showing the r(13) with duplicated and inverted segment and its normal homologue.