Schematic representation of the 2q37.3 deletions in the family of the current study relative to recently reported HDAC4 mutations (SMS117, SMS245) or 2q37.3 deletions involving HDAC4. The 2q37.3 deletions of SMS272 (hg18, chr2:239,764,593-240,938,545), SMS320 (hg18, chr2:237,920,956-240,938,547) and the patient described by Morris et al.19 were detected by array CGH, while the deletions of the other patients were located by break point mapping using microsatellite analysis or by cytogenetic analysis with G-banding. RefSeq Gene positions are according to UCSC hg18 (NCBI36/ Version Mar 2006).