应用微阵列比较基因组杂交技术诊断7p15.3p22.1微缺失1例  

Diagnosis of one case with 7p15.3p22.1 microdeletion by applying array-based comparative genomic hybridization

作　　者：彭薇[1] 杨晓[1] 刘欣[1] 吴虹林[1] 王艳[1] 

机构地区：[1]北京军区总医院附属八一儿童医院临床遗传学中心,北京100700

出　　处：《临床儿科杂志》2014年第8期757-759,共3页Journal of Clinical Pediatrics

基　　金：国家自然科学基金资助项目(No.81300527)

摘　　要：目的探讨应用微阵列比较基因组杂交(array-CGH)技术诊断7p15.3p22.1微缺失,并分析其临床表现和7p15.3p22.1缺失的相关性。方法对1例常规染色体核型分析未见异常的新生儿采用array-CGH技术进行全基因组拷贝数变化(CNVs)分析。结果发现患儿7p15.3p22.1片段缺失,位于chr7:6777262-23981753,经与数据库比对为致病性缺失片段。结论 array-CGH可作为常规G显带核型分析的有益补充,应用于临床细胞遗传诊断中。Objective To investigate the diagnosis of a case with 7pl 5.3p22.1 microdeletion by applying array-based comparative genomic hybridization （array-CGH） and to analyze the relationship between the clinical manifestations and 7pl 5.3p22.1 microdeletion. Method Array-CGH technique was used to detect genomic copy number variations （CNVs） in an infant with normal karyotype after conventional chromosomal karyotyping. Results Array-CGH detected 7pl 5.3p22.1 deletion （chr7： 6777262-23981753）, which was confirmed as pathogenic CNV after comparative analysis with database. Conclusion Array-CGH could serve as a useful complement for G-banding to be used in the clinical cytogenefic diagnosis.

关 键 词：微阵列比较基因组杂交 7p15 3p22 1 基因组拷贝数变化 核型分析 细胞遗传学 

分 类 号：R440[医药卫生—诊断学]