微阵列比较基因组杂交技术检测4号染色体长臂部分缺失伴发育迟缓患儿一例  

Array comparative genomic hybridization detection of a de novo 4q21.21-q22.1 deletion in a child with severe growth retardation

作　　者：周静[1] 胡平[1] 刘安 李璃[1] 季修庆[1] 惠伟戎 王艳[1] 许争峰[1] 

机构地区：[1]南京医科大学附属南京妇幼保健院产前诊断中心,210004

出　　处：《中华医学遗传学杂志》2014年第1期52-55,共4页Chinese Journal of Medical Genetics

基　　金：江苏省医学领军人才与创新团队（LJ201109）;国家自然科学基金（81300495）;江苏省临床医学科技专项（SBL201230217）;南京市医学科技发展项目（YKK10043）;南京医科大学重点项目（2011NJMU214）

摘　　要：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4q1．21-q22．1，片段大小12．1Mb，为一种新发的缺失。结论染色体4q1．21-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。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 G- banding 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.

关 键 词：发育迟缓 智力低下 微阵列比较基因组杂交 染色体4q部分缺失 

分 类 号：R749.94[医药卫生—神经病学与精神病学]