Figure 3

Abnormalities detected by SNPa not observed by karyotyping. SNPa profiles showing changes in B allele frequency (blue) and LogR ratio (red) consistent with (A-C) additional copy number changes not observed on the karyotype involving deletion on 17q and duplication on 20q from Case no. 2 and deletion on 22q from Case no. 5; (D-F) mosaic CN-LOH involving terminal 2p (Case no 9) and terminal 9p (Case no. 2) as well as CN-LOH of the entire 14q arm in 100% of DNA from Case no. 5; (G-H) metaphase FISH analysis of Case no. 2 showing the 20q subtelomere (orange signals) on the chromosome 18 (aqua signals) segment of the der(18)t(1;18) (red arrow) and also on the derivative 20 from the t(1;20) (blue arrow).