应用微阵列比较基因组杂交技术诊断7q11.22微缺失2例

doi:10.11852/zgetbjzz2015-23-08-34

中国儿童保健杂志 ›› 2015, Vol. 23 ›› Issue (8): 885-887.DOI: 10.11852/zgetbjzz2015-23-08-34

应用微阵列比较基因组杂交技术诊断7q11.22微缺失2例

武彬彬^1,2,徐克¹

1 中南大学湘雅医学院医学检验系，湖南长沙 410013；
2 广州金域医学检验中心，广东广州 510330

收稿日期:2015-04-20 发布日期:2015-08-10 出版日期:2015-08-10
通讯作者: 徐克前，E-mail：xukeqian@126.com
作者简介:武彬彬(1982-),女,在读研究生,主要研究方向为分子诊断。

Diagnosis of two cases with 7p11.22 microdeletion by applying array-based comparative genomic hybridization.

WU Bin-bin^1,2,XU Ke-qian¹

1 Department of Clinical Laboratory,Xiangya Medical School,Central South University,Changsha,Hunan 410013,China;
2 Guangzhou Kingmed Center for Clinical Laboratory,Guangzhou,Guangdong 510330,China

Received:2015-04-20 Online:2015-08-10 Published:2015-08-10

摘要/Abstract

摘要： 目的探讨应用微阵列比较基因组杂交技术（array comparative genomic hybridization，aCGH）诊断2例7q11.22微缺失，并分析其临床表现和7q11.22缺失的相关性。方法对应用常规染色体核型分析未见异常的2例不明原因智力低下/发育迟缓患儿采用aCGH 技术进行全基因组拷贝数变化(copy number variations，CNVs)分析。结果发现2例患儿均为7q11.22片段缺失，分别位于：chr7:6947962169539140; chr7:6994565270019838，经与数据库比对均为致病性缺失片段（AUTS2基因）。结论 aCGH技术可以弥补染色体核型分析的不足，具有更高的分辨率，更具有临床应用价值。

关键词: 微阵列比较基因组杂交技术, 7q11.22, 基因组拷贝数变化, 核型分析

Abstract: Objective To investigate the diagnosis of 2 cases with 7q11.22 microdeletion by applying array based comparative genomic hybridization (aCGH) and to analyze the relationship between the clinical manifestations and 7q11.22 microdeletion. Method The aCGH technique was used to detect genomic copy number variations (CNVs) in 2 cases with normal karyotype after conventional chromosomal karyotyping. Result The aCGH detected 7q11.22 deletion (chr7:69479621-69539140 and chr7:69945652-70019838),which was confirmed as pathogenic CNV after comparative analysis with database. Conclusion The array-CGH could serve as a useful complement for G-banding and to be used in the clinical cytogenetic diagnosis.

Key words: array based comparative genomic hybridization, 7q11.22, copy number variations, karyotype

中图分类号:

R394.3

武彬彬,徐克. 应用微阵列比较基因组杂交技术诊断7q11.22微缺失2例[J]. 中国儿童保健杂志, 2015, 23(8): 885-887.

WU Bin-bin,XU Ke-qian. Diagnosis of two cases with 7p11.22 microdeletion by applying array-based comparative genomic hybridization.[J]. journal1, 2015, 23(8): 885-887.

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应用微阵列比较基因组杂交技术诊断7q11.22微缺失2例

Diagnosis of two cases with 7p11.22 microdeletion by applying array-based comparative genomic hybridization.

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