Figure 2

Chromosome 15 array Comparative genomic hybridization (CGH) analysis and partial karyotype of the case. (A) The log₂ ratio plots representing array-CGH analysis using the chromosome 15-BAC microarray. Raw and Normalized data are shown in a clone-by-clone order for both dye-reversal experiments; the combined ratio plot designates loss, gain or normal value for every clone. The ordering of clones (top to bottom) is for chromosome 15 centromere to telomere, followed by all other autosomes and chromosomes X and Y. The overall mean across all clones for the gain state was +0.22, for the loss state -0.34, and for the no-change state -0.04. These values were set as approximate values for predicting a loss or gain for a clone. A loss value is seen for five non-overlapping clones. The clones listed in blue are deleted; the adjacent clones listed in black are not deleted. Clone RP11-353B9 (italicized) was not an arrayed clone but was included for FISH analysis as it was immediately proximal to the deletion boundary. The meagabase position of clones is indicated alongside the clone number. (B) Ideogram of chromosome 15 with demarcation (red box) of the CGH-predicted breakpoints with reference to cytogenetic bands. Partial karyotype, showing normal and deleted chromosome 15, with an apparent interstitial deletion of 15q21.2q22.1.