Many of the chromosomal elements such as low copy repeats (LCR), and segmental duplications (SD) which have been associated with structural alterations identified in diseases such as autism, neurofibromatosis and Sotos syndrome (OMIM) have been ruled out in the case of the DMD hotspot [15] and recently in the chr6q26 hotspot [16]. Here, DMD is linked to Sotos syndrome.