- 期刊
Smith-Magenis Syndrome: Report of One Case
Smith-Magenis二氏症：一病例報告
摘要
Smith-Magenis二氏症(SMS)是一種先天多重畸形及智障的染色體異常疾病，主要是染色體17p11.2區域缺損所致。一名三歲女孩因為中度精神運動發展緩及行為問題包括自殘、過動及睡眠障礙而被轉介求診。合併症狀有視覺、聽覺異常及腦室擴大，右橫實發育不良。常規細胞遺傳學檢查顯示拼湊型17p11.2區域間隙缺損（於65%細胞）。但以螢光性原位雜交法（使用的探針D17S29乃針對SMS關鍵區域）确定所有細胞均呈現缺損狀態。病人以褪黑激素(melatonin)治療後睡眠困難得以緩解。
並列摘要
Smith-Magenis syndrome (SMS) is a multiple congenital anomalies/mental retardation syndrome characterized by an interstitial deletion on the short arm of chromsosome 17 involving the band p11.2.A 3-year-old girl was referred for evaluation of moderate psychomotor retardation and several behavioral problems including self-injuring behavior, hyperactivity, and sleep disturbance. Visual and hearing impairment, and brain abnormalities including ventriculo megaly and hypoplastic right transverse sinus, were detected. Routine cytogenetic study showed an apparent mosaicism of an interstitial deletion over the chromosomal region 17p11.2 in 65% metaphases. However, the microdeletion was found in all metaphases by fluorescence in situ hybridization study with the probe D17S29 (for Smith-Magenis critical region on 17p11.2). Her sleep disorder improved after the use of melatonin.