ABSTRACT

 Smith-Magenis syndrome (SMS) is characterized by distinctive physical features, developmental delay, cognitive impairment, sleep disturbances, and behavioral abnormalities such as aggression, self-injurious behaviors due to decreased sensitivity to pain. The syndrome is caused primarily by de novo interstitial deletions of chromosome 17p11.2, which can range from 1.5 to 9 Mb in size. We present case report of 2 years girl with Smith Magenis syndrome, that was confirmed with FISH analysis. This case shows the importance of FISH testing when patient has phenotypic signs of microdeletion syndromes.