Figure 5

Duplicon at Xp21.3 were observed at Xp22.2 by FISH. (a) Representative results of FISH in probands of MR22T (upper) and MRK13 (lower). FISH using the clone RP11-2K15 at Xp22.2 (left column) and the clone RP11-438J7 at Xp21.3 (right column) showed strong green signals (arrows) and separate green signals (arrowheads), respectively, and the clone RP11-13M9 at Xq13.2 shows red signals as a reference in both experiments. An enlarged image of chromosome X is shown in the upper right insets in each panel. (b) Representative results of FISH in the patient's mother (I-2) in MRK13 with elongated metaphase chromosomes prepared as described elsewhere.⁴⁴ The clone RP11-2K15 at Xp22.2 and the clone RP11-438J7 at Xp21.3 demonstrated strong signals (red) and separate signals (green), respectively, in one allele. An enlarged image of the duplicated allele is shown in the upper right inset, indicating that the duplicated sequence at Xp22.2 was inserted in close proximity (arrow), whereas the duplicated sequence at Xp21.3 inserted into the duplication at Xp22.2 together with the original Xp21.3 (arrowheads). A full color version of this figure is available at The Journal of Human Genetics journal online.