According to the current literature, there are only two other patients with both ARMs and 1q21.1 duplications detected by array-CGH analysis: a girl with retro-perineal fistula and a 1.3 Mb duplication disrupting the ACP6 gene [1], and a 3-year-old male with imperforate anus and perineal fistula and a 1.3 Mb duplication (146,508,774–147,825,454) [19]. The gene discussed is ACP6; the disease is imperforate anus.