查看文章

SMS is characterized by a clinically recognizable neurobehavioral, cognitive, and physical phenotype that is usually associated with an interstitial deletion of 17p11. 2. Haploinsufficiency of the retinoic acidinduced 1 gene (RAI1) is responsible for the common neurobehavioral and craniofacial aspects of the phenotype, whereas less common features such as cardiac and renal defects are thought to be due to hemizygosity of other genes in the 17p11. 2 region [Slager et al., 2003; Girirajan et al., 2006]. Published estimates of the prevalence of SMS range from 1/25,000 to 1/63,222 [Colley et al., 1990; Greenberg et al., 1991; Struthers et al., 2002]. Cognitive and neurobehavioral manifestations of SMS include mental retardation, hyperactivity, stereotypy (often including self-hugging behavior), self-injurious behavior, and sleep dysfunction with inverted circadian rhythm of melatonin [Smith et al., 2006]. Brachycephaly …