CAJ | 학술논문

目的分析1例生长发育迟缓、智力低下及语言发育迟缓患儿的遗传学原因.方法用常规G显带技术分析患儿及其父母外周血染色体,然后用微列阵比较基因组杂交技术(array comparative genomic hybridization,array-CGH)进行DNA拷贝数分析.结果患儿及其父母的外周血常规染色体核型分析未见异常.array-CGH分析结果显示患儿4号染色体部分单体,缺失区域为4q21.21-q22.1,片段大小12.1 Mb,为一种新发的缺失.结论染色体4q21.21-q22.1微缺失与患儿生长发育迟缓、智力低下及语言发育严重延迟等临床表型相关.array-CGH在临床检测不明原因发育迟缓和智力低下患者中具有显著的优势.
목적 분석1례생장발육지완、지력저하급어언발육지완환인적유전학원인.방법 용상규G현대기술분석환인급기부모외주혈염색체,연후용미렬진비교기인조잡교기술(array comparative genomic hybridization,array-CGH)진행DNA고패수분석.결과 환인급기부모적외주혈상규염색체핵형분석미견이상.array-CGH분석결과현시환인4호염색체부분단체,결실구역위4q21.21-q22.1,편단대소12.1 Mb,위일충신발적결실.결론 염색체4q21.21-q22.1미결실여환인생장발육지완、지력저하급어언발육엄중연지등림상표형상관.array-CGH재림상검측불명원인발육지완화지력저하환자중구유현저적우세.
Objective To analyze a child with developmental delay,severe mental retardation,speech delay and muscular hypotonia.Methods The karotypes of the child and her parents were analyzed with Gbanding analysis.Their genome DNA was also analyzed with array comparative genomic hybridization (array-CGH).Results No karyotypic abnormality was detected at cytogenetic level.However,array-CGH has identified a de novo 4q21.21-q22.1 deletion in the child,which has a size of 12.1 Mb.Conclusion The de novo interstitial 4q21.21-q22.1 deletion probably underlies the main clinical manifestation in the child.Array-CGH is useful for diagnosing children with multiple congenital anomalies with unclear etiology.