Figure 1

Array CGH profiles for XLMR patients with relevant CNVs. Each dot represents the mean log2 transformed and Lowess normalized test over reference intensity ratio (y-axis), which is derived from four independent replicate spots on the array, in a replicate dye swap experiment. The Mb position of the clones on the X chromosome is displayed in the x-axis, ordered from p-telomere to q-telomere on the basis of physical mapping positions, according to the hg17 assembly of the UCSC genome browser [34]. (A) 400-kb deletion at Xp11.4 (37.9–38.8 Mb) in patient 1. (B) Deletion spanning a region of 1 Mb (43.01–43.98 Mb) in Xp11.3 in patient 2. (C) Deletion of two clones in Xq12 spanning 82 kb (67.10–67.18 Mb) in patient 3. (D) 800-kb duplication at Xp22.12 (19.82–20.65 Mb) in patient 4. (E) Duplication of 700 kb at Xq28 (152.4–153.1 Mb) in patient 5. (F) Duplication of 250 kb at Xq28 (153.2–153.5 Mb) in patient 6. (G) Duplication of 400 kb at Xp11.22 (53.53–53.94 Mb) in patient 7. (H) Duplication of 180 kb at Xq12 (62.07–62.26 Mb) in patient 8.