Figure 1

From identification of an index case to frequency of the re-arrangement and analysis of the candidate genes: A) COBRA-FISH molecular karyotypes on metaphases from CB13 shows translocation between the short arm of chromosome 5 (white arrows) and the long arm of chromosome 17 (white arrows) (a schematic view of the rearrangement is given in the inset). B) The schematic view recapitulating the results of the FISH mapping (left) (chromosome 5 in the upper part and chromosome 17 in the lower part) The probes that resulted translocated are shown in red, and the retained ones are shown in green. On the right (from top to bottom), interphase FISH shows splitting of the probes covering chromosomes 5 (top) and 17 (bottom) breakpoint regions in the mononuclear cells of CB13, while no rearrangement was found in multinuclear giant cells (middle: confocal microscopy shows a giant cell with 2 nuclei with a normal paired red and green signal). C) Diffuse expression was found by immunohistochemistry for SRD5A1 (picture from CB13). Immunohistochemistry for carbonic anhydrase-related protein X is shown: absent signal in CB13 (D) and diffuse signal of moderate intensity in the other cases (E, CB11); heterogeneous staining was found in multinucleated giant cells. F) Scattered cells in matrix-rich areas were found to express AR (CB13). G) Heterogeneous staining was found in multinucleated giant cells for ESR1 (CB7) (magnification bar = 50 μm).