He Xuelian, Huang Yufeng, Luo Sukun, Cai Xiaoman, Zeng Chao, Lin Jun
Clinical Research Center, Wuhan Children's Hospital (Wuhan Maternal and Child Health Care Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, Hubei 430016, China. Email:
Department of Rehabilitation, Wuhan Children's Hospital (Wuhan Maternal and Child Health Care Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, Hubei 430016, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Jun 10;36(6):624-627. doi: 10.3760/cma.j.issn.1003-9406.2019.06.024.
To carry out single nucleotide polymorphism (SNP)-based chromosome microarray analysis (CMA) for a boy featuring global developmental delay.
The SNP array was conducted for the child, and real-time PCR was used to validate its result and identify the origin of pathological copy number variants.
SNP array revealed that the patient has carried a de novo 2.5 Mb duplication at 2q22.3q23.3, which encompassed ACVR2A, KIF5C, MBD5, EPC2, LYPD6, LYPD6, MMADHC and ORC4 genes. Literature review suggested that the MBD5 gene from the duplicated region may have predisposed to the global developmental delay shown by the girl.
The patient's clinical phenotype was consistent to that of 2q23 duplication, for which the MBD5 gene may play a key role. CMA has provided an important tool for the diagnosis of patients with global developmental delay.
对一名存在全面发育迟缓的男孩进行基于单核苷酸多态性（SNP）的染色体微阵列分析（CMA）。
对该患儿进行SNP阵列检测，并采用实时荧光定量PCR验证结果及确定病理性拷贝数变异的来源。
SNP阵列显示该患者在2q22.3q23.3区域存在一个2.5 Mb的新发重复，其中包含ACVR2A、KIF5C、MBD5、EPC2、LYPD6、MMADHC和ORC4基因。文献回顾提示，重复区域中的MBD5基因可能是该女孩出现全面发育迟缓的原因。
患者的临床表型与2q23重复一致，其中MBD5基因可能起关键作用。CMA为全面发育迟缓患者的诊断提供了重要工具。
