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.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
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）
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
9p partial trisomy
Array-based comparative genomie hybridization
Development delay
Speech and language disorders Supported by the National Natural Science Foundation of China （Proj. No. 30872782）, the Technology Development Foundation of Jiangsu Provincial Department of Health （H201068）, the Natural Science Foundation of Jiangsu Province （BK2008077）, and the Technology Development Foundation of Nanjing Medical University （09NJMUZ43）
