372Â kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment

► SETBP1 haploinsufficiency is related with expressive speech impairment. ► Array-CGH revealed a cryptic microdeletion in an apparently balanced translocation. ► SETBP1 analysis in patients with developmental delay, behavioural problems, verbal dyspraxia.