Examples of SNP array images. A. From bone marrow (BM) refrigerated for 26 days before DNA extraction (Case SVH01 of ) showing deletion of 5q (left) and copy number neutral LOH of chromosome 17 (right). B-C. From bone marrow refrigerated for (B) one day and (C) 42 days before DNA extraction. D-E From DNA extracted from (D) 4 year old and (E) 12 year old fixed cytogenetic preparations (CHR). Deletion of 5q in each example was validated by FISH. In the case shown in A there were two copies of a dic(17;20) and the un-rearranged chromosome 17 had been lost , affirming copy number neutral LOH of chromosome 17. The CytoSNP 12 microarray has a 6.2 kb median probe spacing.
MacKinnon et al. Molecular Cytogenetics 2012 5:10 doi:10.1186/1755-8166-5-10