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Korean J Pediatr 2009 June;52(6) :701-704.
Two cases of Smith-Magenis syndrome
Seong Kwan Jung (Jung SK)1, Kyu Hee Park (Park KH)1, Hae Kyung Shin (Shin HK)1, So Hee Eun (Eun SH)1, Baik-Lin Eun (Eun BL)1, Kee Hwan Yoo (Yoo KH)1, Young Sook Hong (Hong YS)1, Joo Won Lee (Lee JW)1, Sook Young Bae (Bae SY)2
1Department of Pediatrics, Korea University College of Medicine, Seoul, Korea
2Department of Laboratory Medicine, Korea University College of Medicine, Seoul, Korea
Corresponding Author: Baik-Lin Eun ,Email:,
Copyright © 2009 by The Korean Pediatric Society
SmithMagenis syndrome (SMS) is a rare disorder with multiple congenital anomalies caused by a heterozygous interstitial deletion involving chromosome 17p11.2, where the retinoic acid-induced 1 (RAI1) gene is located, or by a mutation of RAI1. Approximately 90% of the patients with SMS have a detectable 17p11.2 microdeletion on fluorescence in-situ hybridization (FISH). SMS is characterized by mental retardation, distinctive behavioral features, craniofacial and skeletal anomalies, speech and developmental delay, and sleep disturbances. Although there are some intervention strategies that help individuals with SMS, there are no reported specific interventions for improving the outcome in children with SMS. Here, we report two cases of SmithMagenis syndrome.
Keywords: Smith-Magenis syndrome | Chromosomal study | Fluorescence in-situ hybridization
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