先证者
遗传学
微缺失综合征
生物
核型
表型
染色体
基因
基因复制
基因检测
拷贝数变化
微阵列
异常
微阵列分析技术
突变
医学
基因组
基因表达
精神科
作者
Xiangyi Jing,Lei Zhang,Ru Li,Yongling Zhang,Fucheng Li,Cuixing Yi,Can Liao
出处
期刊:PubMed
[National Institutes of Health]
日期:2019-07-10
卷期号:36 (7): 672-675
标识
DOI:10.3760/cma.j.issn.1003-9406.2019.07.004
摘要
To explore the genetic basis for three patients with development delay and to correlate their clinical phenotypes with genetic findings.The karyotypes of the probands and their parents were analyzed by conventional G-banding. Chromosomal microarray analysis (CMA) was used to detect microdeletion and microduplication.No kartotypic abnormality was detected in the patients and their parents. CMA analysis identified a de novo 3.10 Mb deletion on chromosome 15q24.1q24.2 in case 1, a de novo 3.14 Mb deletion at 15q24.1q24.2 in case 2, and a 3.13 Mb deletion at 15q24.1q24.2 in case 3. All deletions have encompassed the CPLX3,SEMA7A and SIN3A genes.The three patients were diagnosed with 15q24 microdeletion syndrome. CPLX3,SEMA7A and SIN3A may be the key genes responsible for this syndrome.
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