In rare cases, they may also lead to disruption of a Mendelian disease gene and consequent disease expression: for example, study of two individuals with clinical diagnoses of Sotos syndrome who were found to have translocations with breakpoints disrupting 5q35 ultimately led to the identification of NSD1 as the Sotos syndrome gene (MIM# 117550) [50, 51]. The gene discussed is NSD1; the disease is Sotos syndrome.