Figure 1

Facial appearance, genomic imbalances and genes with altered copy number in probands. (a, d, g, j) The facial appearance of patients 1 (age 6 years), 2 (age 15 years), 3 (age 22 years) and 4 (age 9 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.