Fig. 1

Genetic analyses of the present cases. a Array-CGH data for the present case. The left-top panel depicts the abnormal G-band pattern (arrow) of chromosome 11 in the peripheral leukocytes. On the right top, the log₂ values of relative copy numbers are plotted against the base position (x10E6) at chromosome 11. Color codes represent gain (green) or loss (red) of the probed regions. The horizontal dashed lines indicate the thresholds of duplication (0.5) and heterozygous deletion (−1.0). The lower-panel shows a magnified view of the deleted region. G-band locus (thick, black and gray lines) and protein-coding genes (blue boxes) are mapped on the coordinates available at the UCSC genome browser (GRCh37/hg19). Chromosomal locations of the three WAGR syndrome-associated genes (BDNF, PAX6 and WT1) are denoted under the diagram. b The FISH image. The green (arrowheads) and red (arrows) signals show CCND1 (control) and WT1 loci, respectively. Note that one copy of the WT1 (arrow) is missing while the two copies of CCND1 signals (arrowheads) are unaffected. c Quantitative PCR data for this case and a healthy control. PRMT3 (chr11:20,409,076–20,530,879) serves as an internal control. Bar plots show the relative copy numbers of WT1, PAX6 and BDNF (mean ± SD, n = 4) to that of PRMT3 for each individual