Chromosome and CMA findings in patient RX1. A-C. Partial karyotype demonstrating three cell lines: 46,X,del(X)(p11.23)/46,X,r(X)/45,X. D: A whole genome plot of the chromosomal microarray analysis showing a loss in copy number of clones between RP11-1325A17 and RP11-416B14 of the short arm of chromosome X (blue arrow) and a gain in copy number of clones (RP11-258C19, RP11-541G7 and RP11-465B24) corresponding to the Xp pericentromeric region (red arrow). The start and end of the X chromosome is highlighted by two red lines. E: Two probes RP11-541G7 (red signal) and RP11-52N6 (green signal) corresponding to the duplicated region on array CGH can be seen on the normal X chromosome with the r(X) chromosome lacking hybridization. The hybridization to the der(X) is not shown. F: A duplication of the Xp11.21-p11.22 region detected on the interphase cell using RP11-541G7 probe inferred to originate from the der(X).