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目的分析1例发育迟缓患儿的遗传学原因,探讨其染色体DNA拷贝数变异与表型的相关性。方法发育迟缓患儿1例,应用常规G显带核型分析患儿及其父母的染色体核型,应用微阵列比较基因组杂交技术分析患儿及其父母DNA拷贝数变异,并对核型分析结果进行精确定位。结果常规G显带核型分析示该患儿父母染色体核型正常,患儿为46,XX,del(18)(p11.2);微阵列比较基因组分析示患儿父母基因芯片检测结果正常,患儿18号染色体部分缺失,缺失区域为18p11.32-p11.21,片段大小为11.49 Mb。结论微阵列比较基因组杂交技术分辨率和准确性高,可对染色体微变异进行精确定位;18号染色体短臂部分缺失可能与患儿发育迟缓有关。
Objective To analyze the genetics of a child with stunting and to explore the relationship between its copy number variation and its phenotype. Methods One child with growth retardation was analyzed by conventional G-banding karyotype analysis of karyotypes in children and their parents. The DNA copy number variation in children and their parents was analyzed by microarray comparative genomic hybridization. The karyotype analysis results Accurate positioning. Results The results of conventional G-banding karyotype analysis showed that the karyotypes of parents were normal, with 46, XX and del (18) (p11.2), respectively. The microarray comparative genomic analysis showed that the detection results of parents’ Children with chromosome 18 partial deletion, deletion of the region 18p11.32-p11.21, fragment size of 11.49 Mb. Conclusion Microarray comparative genomic hybridization has the advantages of high resolution and high accuracy, and precise mapping of chromosome microvariation. Partial deletion of short arm of chromosome 18 may be related to the development of children with retardation.