Figure 1

Genomic imbalances on chromosome 1q21.1. A: 5.6K whole genome BAC aCGH profiles for patient V5 on chromosome region 1q21.1. Each dot represents the mean log2 ratio transformed after Lowess normalization (y-axis) from four independent replicate spots on the array. The clones on the 1q21.1 region are displayed in the x-axis. Direct experiments (D) are shown in blue, while dye swap (DS) experiments are displayed in red. Each dot represents a BAC clone present in the aCGH experiment. B: Genome browser representation of the 1q21.1 region containing the microduplication/microdeletion. The figure shows the related segmental duplications that probably mediated the rearrangements and the genes affected. The microduplication of 212 kb (reciprocal to the TAR syndrome micodeletion), and the downstream microdeletion of 1.15 Mb are indicated by two orange bars (GAIN and LOSS).