Smith-magenis syndrome: Clues in the clinic
CitationAkkuş, N., Kılıç, B. ve Özyavuz Çubuk, P. (2020). Smith-magenis syndrome: Clues in the clinic. Journal of Pediatric Genetics, 9(4), 279-284. https://dx.doi.org/10.1055/s-0039-1700965
As a multisystemic congenital mental retardation disorder/anomaly, Smith-Magenis syndrome (SMS) is commonly aroused from de novo interstitial deletion of the 17p11.2 chromosome. The deletion of this chromosome results with haploinsufficiency for the retinoic acid-induced 1 (RAI1) gene. In this article, we present three cases, who were diagnosed with SMS with mental retardation and behavioral problems such as self-hugging and sleeping disturbances. During the evaluation of the patients, it has been found that there was a 3.4-Mb deletion in the 17p11.2 chromosome region of these patients. This deletion includesRAI1that is a critically involved gene in SMS.