| Two cases of Smith-Magenis syndrome |
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Seong Kwan Jung1, Kyu Hee Park1, Hae Kyung Shin1, So Hee Eun1, Baik-Lin Eun1, Kee Hwan Yoo1, Young Sook Hong1, Joo Won Lee1, Sook Young Bae2 |
1Department of Pediatrics, Korea University College of Medicine, Seoul, Korea
2Department of Laboratory Medicine, Korea University College of Medicine, Seoul, Korea |
| Smith-Magenis 증후군 2예 |
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정성관1, 박규희1, 신혜경1, 은소희1, 은백린1, 유기환1, 홍영숙1, 이주원1, 배숙영2 |
1고려대학교 의과대학 소아과학교실
2고려대학교 의과대학 진단검사의학교실 |
Correspondence:
Baik-Lin Eun, Email: bleun@chollian.net, bleun@korea.ac.kr
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| Abstract |
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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. |
| Key Words:
Smith-Magenis syndrome, Chromosomal study, Fluorescence in-situ hybridization |
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