微阵列比较基因组杂交技术诊断9p部分三体患儿一例  

Detection of 9p partial trisomy using array-based comparative genomic hybridization

作　　者：周晓燕[1] 胡平[1] 杨吟秋[1] 李璃[1] 王艳[1] 余章斌[1] 韩树萍[1] 郭锡熔[1] 许争峰[1] 

机构地区：[1]医科大学附属南京市妇幼保健院产前诊断中心,南京210004

出　　处：《中华医学遗传学杂志》2012年第1期52-55,共4页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金（30872782）;江苏省卫生厅医学科研项目（H201068）;江苏省自然科学基金（BK2008077）;南京医科大学科技发展基金（09NJMUZ43）

摘　　要：目的确定1例生长发育迟缓、语言发育障碍患儿的核型，分析其染色体畸变与表型的相关性，探讨微阵列比较基因组杂交（array-based comparative genomic hybridization，array-CGH）在临床分子遗传学诊断中的应用及其优越性。方法应用G显带对患儿及其父母进行核型分析，进一步采用array-CGH技术对患儿进行全基因组高分辨率扫描分析，确定其衍生染色体片段的来源。结果G显带染色体分析显示患儿及其母亲均为inv（9）（p13q13）携带者，患儿13号染色体存在一衍生片段。array-CGH结果证实患儿衍生片段源自9号染色体短臂，确定为9p13．1-p24．3三体。患儿母亲array-CGH结果未见异常。结论 inv（9）（p13q13）与患儿异常表型无关，患儿的异常表型可归因于9p13．1-p24．3三体。同传统细胞遗传分析方法相比，array-CGH具有高分辨率和高精确性的优点。Objective To detect chromosomal aberrations in a child with developmental delay and speech and language disorders in order to explore the underlying genetic causes of congenital malformation, and to investigate the feasibility of array-based comparative genomic hybridization （array-CGH） for molecular genetic diagnosis. Methods G-banding and array-CGH were applied to characterize the genetic abnormality in the three family members. Results G-banding analysis revealed the affected child and the healthy mother are both carriers of inv（9）（p13q13）, while the child has carried a chromosome fragment derived from chromosome 13. Array-CGH analysis indicated the derivative chromosome fragment has originated from 9p with breakpoints at around 9p13.1-p24.3. Conclusion Trisomy 9p13.1-p24.3 may be the cause of congenital malformation in the child. For its high resolution and high accuracy,array-CGH is a powerful tool for genetic analysis.

关 键 词：9p部分三体 微阵列比较基因组杂交 发育迟缓 语言障碍 

分 类 号：R725.9[医药卫生—儿科]