Figure 1From: Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome Facial appearance, genomic imbalances and genes with altered copy number in probands. (a, d, g, j) The facial appearance of patients 1 (age 6Â years), 2 (age 15Â years), 3 (age 22Â years) and 4 (age 9Â years). (b, e, h, k) aCGH profiles. (Left) Ideogram of the chromosome(s) involved in the imbalances with the log2 probe ratio plotted as a function of chromosomal position; h) profile of patient 4 (left) and his mother (right). (c, f, i, m) The gene content of each genomic imbalance. Magnification of the deleted/duplicated region indicating the distal and proximal breakpoint positions (horizontal dotted lines) and a selection of gene content. Blue colour indicates genes cited in the main text. The red bar in m) corresponds to the CTD-3009K5 BAC clone used in the FISH analysis (not to scale). l) FISH analysis using the CTD-3009K5 BAC clone mapping to chromosome 19p13.3 shows a duplicated signal in all cells of proband 4 (left) and in approximately 76% of the nuclei in a maternal sample, confirming the presence of the rearrangement in a mosaic state (right). White arrows indicate nuclei with a duplicated signal.Back to article page