(in Byrd et al). Genome-wide diagnosis of genomic aberrations by matrix CGH (Schwänen 2004).

A. Image of a DNA chip after matrix CGH hybridization with DNA derived from a CLL patient carrying a 13q14 deletion (labeled in green; Cy3) versus human control DNA (labeled in red; Cy5). Insert: PAC clone in 13q14 with a dominantly red fluorescence signal after hybridization, indicating the deletion within this region (see arrowhead).

B. Example of a profile of signal ratios arranged in ascending chromosomal order beginning with 1p and ending with the X and Y chromosome. The cluster of fragments detecting deletion within 13q14 is indicated. In addition the gender mismatch (CLL sample: female, control DNA sample: male) is detected by the imbalanced ratio of the X and Y chromosomes.

C. Assessment of the diagnostic power of the matrix CGH chip by comparison with data obtained by FISH with a comprehensive probe set. In 107 CLL displaying a total of 27 gains and 95 losses, all recurrently imbalanced regions were correctly identified, if the proportion of cells carrying the respective gains or losses was larger than 53% as determined by FISH.