It has been proposed that other genes located in 3q26.1–q26.3, such as GHSR (MIM*601898), CLDN11 (MIM*601326), PLD1 (MIM*602382), and ECT2 (MIM*602382), are related to the development of the neural system, and in particular GHSR is also associated with short stature [20]; therefore some authors consider that dup(3q) syndrome is a contiguous gene syndrome in which the altered gene dosage explains the various characteristics of the phenotypes displayed in the patients [4]. This evidence concerns the gene PLD1 and 3q26 microduplication syndrome.