Array CGH with FISH validation data for cases 17 (A, C) and 21 (B, D) (Table 2). (A) The array CGH results for the X chromosome. Arrow indicates deletion of the steroid sulfatase deficiency critical region (Xp22.31) including the STS gene. (B) The array CGH results for chromosome 22. Arrow indicates duplication of the Digeorge syndrome critical region (22q11.2). (C) FISH with a Xp22.31 specific region probe; arrow indicates a deletion of the probe (STS-) in a del(X)(p22.31p22.31) chromosome. (D) FISH with 22q11.2 specific region probe; circles indicate a duplication of the probe (COMT×3) in an interphase cell.