Terminal 6q25.3 deletion and abnormal behaviour

A 10-year-old mentally retarded boy with terminal 6q25 deletion, dysmorphism and striking abnormal behaviour is reported. The main abnormal physical features recorded at different ages consisted of hydrocephalus, axial hypotonia, absence of spontaneous prehension, long face, synophris, hypertelorism with epicanthic folds, internal alternating strabismus, retinal abnormalities with macular degeneration, beaked nose, long philtrum, high-arched palate, lumbar spina bifida, right paravertebral dimple at the upper sacral region, prominent coccyx, broad thumbs and great toes, fetal pads and cryptorchidism. The special behavioural difficulties were made of restlessness, hyperactivity, obsessive compulsive 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 chromosomal deletions are at high risk of developing behavioural problems.