临床儿科杂志 ›› 2014, Vol. 32 ›› Issue (8): 757-.doi: 10.3969 j.issn.1000-3606.2014.08.015

• 综合报道 • 上一篇    下一篇

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   

  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)
  • 收稿日期:2014-08-15 出版日期:2014-08-15 发布日期:2014-08-15
  • 通讯作者: 王艳 E-mail:001wangyan@sina.com
  • 基金资助:
    国家自然科学基金资助项目(No.81300527)

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   

  1. Clincical Genetics Center, Bayi Children’s Hospital Affiliated to Beijing Military Region General Hospital, Beijing 100700, China
  • Received:2014-08-15 Online:2014-08-15 Published:2014-08-15

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。

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.