The aCGH revealed a 2102 kb 5q35.2-q35.3 deletion involving several genes including NSD1 gene, which is associated with Sotos syndrome.30 This syndrome has been described in several patients with mental retardation, cardiac anomalies, renal anomalies, scoliosis, and seizures.31 MLPA test for this region was done on both parents and the result was normal, suggesting a de novo deletion. Here, NSD1 is linked to Sotos syndrome.