FISH report: signal for 7q11 is labeled in green and 7q22 region is labeled in red. Fluorescent in situ hybridization was performed using cytocell Williams-Beuren region probe. The Williams-Beuren region probe is optimized to detect copy numbers of the ELN gene region at 7q11.2. The 7q22 region-specific DNA probe at 7q22 is included as control probe, where the signal for 7q11 is labeled in green and 7q22 region is labeled in red. The patient was found to have two chromosomes 7, one of which showed no signals corresponding to the test probes diagnostic Williams syndrome. Conclusion: 46.XX, ish del (7q11.2) (ELN X1) (7q22 X2) ELN deletion compatible with Williams’ syndrome.
