Representative examples of array comparative genomic hybridization (aCGH) using the NimbleGen 12*135 HX12 array, from: A) first-degree relatives of 22q11DS patients (N = 11), B) 22q11DS participant with typical 3 Mb deletion (N = 37); C) 22q11DS participant with 3 Mb deletion and distal duplication, which includes the TOP3B gene (N = 2); D) 22q11DS participant with 2.8 MB deletion (N = 3); E) 22q11DS participant with 1.5 MB deletion (N = 3); and F) 22q11DS participant with 1.3 MB Deletion (N = 1).

<p>Representative examples of array comparative genomic hybridization (aCGH) using the NimbleGen 12*135 HX12 array, from: A) first-degree relatives of 22q11DS patients (N = 11), B) 22q11DS participant with typical 3 Mb deletion (N = 37); C) 22q11DS participant with 3 Mb deletion and distal duplication, which includes the TOP3B gene (N = 2); D) 22q11DS participant with 2.8 MB deletion (N = 3); E) 22q11DS participant with 1.5 MB deletion (N = 3); and F) 22q11DS participant with 1.3 MB Deletion (N = 1).</p>