Human chromosome 2. The short arm where the deletion occurs is to the top Three of the patients reported had a consistent proximal breakpoint on chromosome 2, but varying distal breakpoints. The patients have<unk> –16.1 deletions of 5.7 megabases (Mb), 4.5 Mb, 3.9 Mb, 3.35Mb 3.3Mb and 570 kilobases, respectively. In all 21 patients the deletions are de novo — neither parent possessed nor transmitted the mutation to the affected individual. One patient is a genetic mosaic, having some cells with the deletion and others without. Affected genes The largest deletion encompasses approximately 15 protein-coding genes, 6 pseudogenes and a number of other as yet uncharacterised candidates, including: * AHSA2, activator of heat shock 90kDa protein ATPase homolog * BCL11A, B-cell lymphoma/leukemia 11A * C2orf74, Uncharacterized protein C2orf74 * FANCL, E3 ubiquitin-protein ligase FANCL * KIAA1841, Uncharacterized protein KIAA1841 * PAPOLG, Poly(A) polymerase gamma * PEX13, Peroxisomal membrane protein Peroxin-13 * PUS10, Pseudouridylate synthase 10 * REL, C-Rel proto-oncogene protein * SNORA70B, small nucleolar RNA, H/ACA box 70B * USP34, Ubiquitin carboxyl-terminal hydrolase 34 * VRK2, Serine/threonine-protein kinase VRK2 * XPO1, Exportin-1
2p15-16.1 microdeletion syndrome
1p36 deletion syndrome
17q12 microdeletion syndrome
22q11.2 distal deletion syndrome
2q37 deletion syndrome
1q21.1 deletion syndrome
13q deletion syndrome
3q29 microdeletion syndrome