Pure distal monosomy 10q26 in a patient displaying clinical features of Prader-Willi syndrome during infancy and distinct behavioural phenotype in adolescence

Pure distal monosomy 10q26 in a patient displaying clinical features of Pra der-Willi syndrome during infancy and distinct behavioural phenotype in ado lescence: A male patient is reported with terminal 10q26 deletion and clini cal findings suggesting Prader-Willi syndrome during the infancy These find ings included decreased fetal movements, neonatal hypotonia, need for tube feeding, characteristic facial dysmorphism with dolichocephaly, narrow bifr ontal diameter, almond-shaped eyes and epicanthus, hypogenitalism and devel opmental retardation. However, during the further evolution there was neith er hyperphagia nor obesity and chromosomal and molecular investigations Tai led to confirm the diagnosis of Prader-Willi syndrome. Special behavioural abnormalities became evident with notably hyperactivity, hyperkinesis and d estructive tendency. Finally, at the age of 17 years high resolution chromo some studies revealed a terminal 10q26.3 deletion. A review of the literatu re is made on previously reported patients with either a Prader-Willi-like syndrome or a terminal 10q deletion with behavioural problems.