应用微阵列比较基因组杂交技术诊断7p15.3p22.1微缺失1例

彭薇; 杨晓; 刘欣; 吴虹林; 王艳

doi:10.3969 j.issn.1000-3606.2014.08.015

临床儿科杂志 >

2014 , Vol. 32 >Issue 8: 757

DOI: https://doi.org/10.3969 j.issn.1000-3606.2014.08.015

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应用微阵列比较基因组杂交技术诊断7p15.3p22.1微缺失1例

彭薇 ,
杨晓 ,
刘欣 ,
吴虹林 ,
王艳

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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)

收稿日期: 2014-08-15

网络出版日期: 2014-08-15

基金资助

国家自然科学基金资助项目(No.81300527)

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

PENG Wei ,
YANG Xiao ,
LIU Xin ,
WU Honglin ,
WANG Yan

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Clincical Genetics Center, Bayi Children’s Hospital Affiliated to Beijing Military Region General Hospital, Beijing 100700, China

Received date: 2014-08-15

Online published: 2014-08-15

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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。

本文引用格式

彭薇 , 杨晓 , 刘欣 , 吴虹林 , 王艳 . 应用微阵列比较基因组杂交技术诊断7p15.3p22.1微缺失1例[J]. 临床儿科杂志, 2014 , 32(8) : 757 . DOI: 10.3969 j.issn.1000-3606.2014.08.015

Abstract

Objective To investigate the diagnosis of a case with 7p15.3p22.1 microdeletion by applying array-based comparative genomic hybridization (array-CGH) and to analyze the relationship between the clinical manifestations and 7p15.3p22.1 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 7p15.3p22.1 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 cytogenetic diagnosis.

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