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  • 标题:Two cases of Smith-Magenis syndrome
  • 本地全文:下载
  • 作者:Jung, Seong Kwan ; Park, Kyu Hee ; Shin, Hae Kyung
  • 期刊名称:Korean Journal of Pediatrics
  • 印刷版ISSN:1738-1061
  • 出版年度:2009
  • 卷号:52
  • 期号:6
  • 页码:701-704
  • DOI:10.3345/kjp.2009.52.6.701
  • 语种:English
  • 出版社:The Korean Pediatric Society
  • 摘要:

    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.

  • 关键词:Smith-Magenis syndrome; Chromosomal study; Fluorescence in-situ hybridization
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