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Figure 3 | BMC Medical Genetics

Figure 3

From: A coalescence of two syndromes in a girl with terminal deletion and inverted duplication of chromosome 5

Figure 3

FISH analysis. (a) The deletion was verified using probe RP11-73G8 orange (5p15.32). A single orange signal was detected on the normal chromosome 5 and in the nucleus, whereas the signal was absent on the rearranged chromosome 5. Two green signals, one on each chromosome 5, represent the RP11-203I22 (5p15.31) probe, encompassing the FLJ25076 gene. The brighter green signal on the rearranged chromosome 5 indicates that this gene is duplicated. (b) The type of duplication was determined by RP11-433G24 green (5p15.31) and RP11-96P21 orange (5p15.2) probes. Two orange signals (RP11-96P21) on each side of the green signal (RP11- 433G24) on the rearranged chromosome 5 indicated that the duplication was inverted. (c) An idiogram of the normal and rearranged chromosome 5 with probe positions used in Figure 3a is presented. (d) An idiogram of the normal and rearranged chromosome 5 with probe positions used in Figure 3b is presented.

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