临床儿科杂志
臨床兒科雜誌
림상인과잡지
2014年
8期
757-759
,共3页
彭薇%杨晓%刘欣%吴虹林%王艳
彭薇%楊曉%劉訢%吳虹林%王豔
팽미%양효%류흔%오홍림%왕염
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
微陣列比較基因組雜交%7p15.3p22.1%基因組拷貝數變化%覈型分析%細胞遺傳學
미진렬비교기인조잡교%7p15.3p22.1%기인조고패수변화%핵형분석%세포유전학
array-based comparative genomic hybridization%7p15.3p22.1%copy number variations%karyotype%cytogenetics
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。
目的：探討應用微陣列比較基因組雜交(array-CGH)技術診斷7p15.3p22.1微缺失，併分析其臨床錶現和7p15.3p22.1缺失的相關性。方法對1例常規染色體覈型分析未見異常的新生兒採用array-CGH技術進行全基因組拷貝數變化(CNVs)分析。結果髮現患兒7p15.3p22.1片段缺失，位于chr7：6777262-23981753，經與數據庫比對為緻病性缺失片段。結論 array-CGH可作為常規G顯帶覈型分析的有益補充，應用于臨床細胞遺傳診斷中。
목적：탐토응용미진렬비교기인조잡교(array-CGH)기술진단7p15.3p22.1미결실，병분석기림상표현화7p15.3p22.1결실적상관성。방법대1례상규염색체핵형분석미견이상적신생인채용array-CGH기술진행전기인조고패수변화(CNVs)분석。결과발현환인7p15.3p22.1편단결실，위우chr7：6777262-23981753，경여수거고비대위치병성결실편단。결론 array-CGH가작위상규G현대핵형분석적유익보충，응용우림상세포유전진단중。
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.
