摘要
目的分析1例生长发育迟缓患儿的遗传学原因。方法应用常规G显带分析患儿及其父母外周血染色体，用低覆盖度全基因组高通量测序技术（low-coverage massively parallel CNV sequencing, CNV-seq）进行DNA拷贝数变异分析，然后用单核苷酸多态性微阵列技术（single nucleotide polymorphism array, SNP array）进行验证。结果患儿双亲核型正常，患儿核型为46，XX，r（15）（p13q26．3），CNV—seq和SNP array拷贝数变异分析结果均显示患儿15号染色体长臂部分缺失，缺失区域为15q26．2-q26．3，片段大小约3．60Mb，包含已知的导致生长发育迟缓的IGF1R等基因。结论15号环状染色体综合征患儿的临床特征与染色体区带缺失部位和缺失大小相关。该患儿的15q26微缺失导致IGF1R基因单倍剂量不足与生长发育迟缓等临床表型相关。
Objective To explore the genetic cause for a child with developmental delay. Methods The karotypes of the child and her parents were analyzed with G-banding analysis. Their genome DNA was analyzed with low-coverage massively parallel copy number variation sequencing （CNV-seq） and verified by single nucleotide polymorphism array （SNP-array）. Results The karyotype of the child was ascertained as 46,XX,r（15） （p13q26.3）, while both parents showed a normal karyotype. CNV-seq and SNP-array have identified a de novo 15q26.2-q26.3 deletion in the child with a size of approximately 3.60 Mb. Conclusion The abnormal phenotype of the patient carrying the ring chromosome 15 may be attributed to the presence of the 15q26.2-q26.3 microdeletion. The deletion and haploinsufficiency of the IGFJR gene probably underlie the main clinical features of the patient.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2017年第3期406-410,共5页
Chinese Journal of Medical Genetics
基金
江苏省“333工程”科研项目（BRA2014132）
江苏省妇幼健康科研项目（F201670）
淮安市科技创新载体平台建设计划（HAP201016）
