Array-CGH profile of chromosome 4 in case 1 and her parents. A deletion of about 8 Mb was detected in 4q34-qter in case 1 and her mother (black boxes). No deletion was found in her father. Log2 ratio values for all probes are plotted as a function of their chromosomal position. Solid and dotted lines indicate the log2 ratio thresholds -0.25 (loss) and 0.25 (gain), respectively.