Figure 2

Representative (a) interphase and (b) metaphase fluorescence in situ hybridization images showing microduplication of 17q11.2 in subject 7. Bacterial artificial chromosome probe RP11–353O18 from 17q11.2 is labeled in red, and bacterial artificial chromosome probe RP13–640F18 from the 17q subtelomere is labeled in green as a control. On interphase cells, three red signals are present, indicating duplication. Metaphase fluorescence in situ hybridization excluded an unbalanced translocation.