Fig. 2.

aCGH and FISH experiments on 16p11.2. a A detail of the patient’s aCGH analysis showing a ~289-kb deletion on the chromosome 16p11.2 distal region. b FISH experiments on the patient and both parents using RP11-264B17 (SpO) BAC clone. Only one signal was observed on 16p11.2 in the patient, confirming the deletion found in aCGH. Two hybridization signals were observed in each parent, indicating the de novo origin of the deletion. Location of RP11-264B17 probe based on hg18: 28786266–28936684