Terminal 6q25.3 deletion and abnormal behaviour

Terminal 6q25.3 deletion and abnormal behaviour: A 10-year-old mentally ret arded boy with terminal 6q25 deletion, dysmorphism and striking abnormal be haviour is reported. The main abnormal physical features recorded at differ ent ages consisted of hydrocephalus, axial hypotonia, absence of spontaneou s prehension, long face, synophris, hypertelorism with epicanthic folds, in ternal alternating strabismus, retinal abnormalities with macular degenerat ion, beaked nose, long philtrum, high-arched palate, lumbar spina bifida, r ight paravertebral dimple at the upper sacral region, prominent coccyx, bro ad thumbs and great toes, fetal pads and cryptorchidism. The special behavi oural difficulties were made of restlessness, hyperactivity, obsessive comp ulsive reactions with a self-injurious tendency and episodes of apparently voluntary vomiting crisis concomitant with stress periods. A review of the available literature strongly suggests that individuals with small chromoso mal deletions are at high risk of developing behavioural problems.