Tian Baodong, Yu Donglan, Wang Guangli, Huang Bingyi, Zhu Chunjiang
Laboratory of Genetics and Precision Medicine, the Affiliated Hospital of Guilin Medical College, Guilin, Guangxi 541001, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Sep 10;39(9):1005-1010. doi: 10.3760/cma.j.cn511374-20210507-00388.
To report on a case of Smith-Magenis syndrome (SMS) due to a rare small-scale deletion.
Muscle samples from the the third fetus was collected after the in Medical history and clinical data of the patient were collected. The child and his parents were subjected to chromosome karyotyping analysis, multiplex ligation-dependent probe amplification (MLPA) and copy number variation sequencing (CNV-seq).
The child was found to have a normal karyotype. MLPA and CNV-seq detection showed that he has harbored a 1.22 Mb deletion and a 0.3 Mb duplication in the 17p11.2 region. Neither of his parents was found to have similar deletion or duplication.
The child was diagnosed with SMS due to a rare 1.22 Mb deletion in the 17p11.2 region, which is among the smallest deletions associated with this syndrome.
报告一例因罕见小片段缺失导致的史密斯-马吉尼斯综合征（SMS）病例。
收集患者的病史和临床资料后，采集了第三个胎儿的肌肉样本。对患儿及其父母进行了染色体核型分析、多重连接依赖探针扩增（MLPA）和拷贝数变异测序（CNV-seq）。
患儿染色体核型正常。MLPA和CNV-seq检测显示，他在17p11.2区域存在一个1.22 Mb的缺失和一个0.3 Mb的重复。其父母均未发现类似的缺失或重复。
该患儿因17p11.2区域罕见的1.22 Mb缺失被诊断为SMS，这是与该综合征相关的最小缺失之一。
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