Figure 4.

Chromosome 22 profile for proband P2 obtained with a single cell amplification product on the NimbleGen Chromosome 22 Tiling array. Beside the 3 Mb deletion, the bar code pattern displays a possible presence of two smaller deletions at positions 34 and 38 Mb with sizes between 650 kb and 1.3 Mb. The deletion at position 38 Mb corresponds to the location of the real existing 1.2 Mb deletion. However, the second putative deletion at position 34 Mb is false positive, demonstrating that CNVs with a size of <2 Mb cannot be reliably detected in a single cell. Here the center profile was obtained with a 20.000 oligo sliding window (1.3 Mb).