史密斯-马吉尼斯综合征：一例罕见病例报告。
Smith-magenis syndrome: A rare case report.
作者信息
Sinha Rupam, Jha Harshvardhan, Deb Debarati, Datta Mainak
机构信息
Department of Oral Medicine and Radiology, Haldia Institute of Dental Sciences and Research, Banbishnupur, Balughata Rd, West Bengal, India.
出版信息
J Family Med Prim Care. 2022 Mar;11(3):1191-1194. doi: 10.4103/jfmpc.jfmpc_1279_21. Epub 2022 Mar 10.
Abstract
Smith-Magenis syndrome is a rare genetic disorder involving multiple body systems, along with mental retardation and sleep disturbances. It is attributed to micro deletion at 17p11.2 chromosome region encoding for RAI1 gene. This article presents a case report of a 7-year-old patient having this rare syndrome along with his genetic analysis.
摘要
史密斯-马吉尼斯综合征是一种罕见的涉及多身体系统的遗传性疾病，伴有智力迟钝和睡眠障碍。它归因于17号染色体p11.2区域编码RAI1基因的微缺失。本文介绍了一名患有这种罕见综合征的7岁患者的病例报告及其基因分析。
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