【摘要】 目的 探讨1例全面发育迟缓（GDD）患者7q21.3-7q22.1基因的变异特点，为其临床诊断与遗传咨询提供依据。方法 选取1例GDD患者为研究对象，收集患者的临床资料。通过全外显子组测序对患者进行基因检测，以及WEAVER^TM算法检测外显子层面的DNA拷贝数变异。结果 全外显子组测序结果显示患儿在7q21.3-7q22.1区段存在重复：（chr7:?＿93055667-101899117＿?）×3（精确断裂点未知），既往未见文献报道。患儿父母该位点均未见异常，提示患儿为新发突变。结论 7q21.3-7q22.1拷贝数变异可能为该患儿的遗传学病因。更多还原

【Abstract】 Objective To explore the characteristics of 7q21.3-7q22.1 gene in a patient with global development delay（GDD）, in order to provide a feasibility basis for clinical diagnosis and genetic counseling of this disease. Methods A child with GDD was selected as the study subject. Clinical data of the patient were reviewed. Whole-exome gene sequencing was used for gene detection, and WEAVER^TM algorithm was used for DNA copy number variation（CNV） at exon level. Results A microduplication at 7q21.3-7q22.1:（chr7:?＿93055667-101899117＿?）×3 was identified by whole-exome gene sequencing（The exact breaking point is unknown）, this was new mutation had not been reported before. No abnormalities in this site were detected in the parents, suggesting that was a new mutation. Conclusion 7q21.3-7q22.1 copy number variation may be the causative agent of this child, respectively.更多还原