[一名发育迟缓与智力障碍儿童的遗传学研究]
[Genetic study of a child with developmental delay and mental retardation].
作者信息
Zhang Jianlin, Zhang Junrong, Yang Yimei, Wang Shanshan, Yao Feng, Zhang Yuquan
机构信息
Department of Gynecology and Obstetrics, the Affiliated Hospital of Nantong University, Nangtong, Jiangsu 226001, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Aug 10;37(8):867-870. doi: 10.3760/cma.j.issn.1003-9406.2020.08.015.
OBJECTIVE
To explore the genetic basis for a child with developmental delay and mental retardation.
METHODS
Chromosomal karyotype of the child was analyzed by G-, C- and N-banding techniques. Her genome DNA was analyzed with single nucleotide polymorphisms array (SNP array). The result was validated by fluorescence quantitative polymerase chain reaction (PCR).
RESULTS
The karyotype of the child was ascertained as 46,XX,r(22)(p12q13). SNP array has revealed a deletion of approximately 1.4 Mb at 22q13.33 (49 802 963-51 197 766). The deletion has encompassed the SHANK3, a crucial gene for the development of nervous system. Fluorescence quantitative PCR has confirmed the deletion of exons 7, 19 and 22 of the SHANK3 gene.
CONCLUSION
The phenotype of the patient may be attributed to the microdeletion at 22q13.33. Cytogenetic methods combined with SNP array and fluorescence quantitative PCR can identify aberrant chromosomes and provide accurate information for the clinical diagnosis and genetic counseling.
目的
探究一名发育迟缓及智力障碍儿童的遗传基础。
方法
采用G显带、C显带和N显带技术分析该儿童的染色体核型。利用单核苷酸多态性阵列（SNP阵列）分析其基因组DNA。结果通过荧光定量聚合酶链反应（PCR）进行验证。
结果
该儿童的核型确定为46,XX,r(22)(p12q13)。SNP阵列显示22q13.33（49 802 963 - 51 197 766）处存在约1.4 Mb的缺失。该缺失包含了SHANK3基因，这是神经系统发育的关键基因。荧光定量PCR证实了SHANK3基因外显子7、19和22的缺失。
结论
患者的表型可能归因于22q13.33处的微缺失。细胞遗传学方法结合SNP阵列和荧光定量PCR能够识别异常染色体，并为临床诊断和遗传咨询提供准确信息。
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