摘要目的:明确1例发育迟缓患儿的染色体拷贝数变异性质和来源，分析其与表型的相关性。方法:应用G显带染色体核型分析以及单核苷酸多态性微阵列芯片(single nucleotide polymorphism array，SNP-array)技术对患儿及其父母进行检测。结果:G显带核型分析结果显示患儿的染色体核型为46，XX，add(8)(p23)，其父母核型均未见异常。SNP-array分析提示患儿在8p23.1pter区存在6.78 Mb微缺失，8p23.1q11.1区域存在34.9 Mb的重复，其父母未见染色体拷贝数异常。结论:确认1例8p倒位重复伴末端缺失综合征，由8p23.1上嗅觉受体(olfactory receptor，OR)基因簇发生非等位同源重组所致，可能与患儿发育迟缓表型相关。

abstractsObjective:To delineate the nature and origin of a chromosomal aberration detected in a boy with mental retardation.Methods:The proband and his parents were subjected to routine G-banded chromosomal karyotyping and single nucleotide polymorphism array (SNP-array) analysis.Results:The karyotype of the proband was determined as 46, XX, add(8)(p23). No karyotypic abnormality was detected in either of his parents. SNP-array has identified a 34.9 Mb duplication at 8p23.1q11.1 and a 6.78 Mb microdeletion at 8p23.1pter in the proband. No copy number variation was detected in either parent.Conclusion:The child was diagnosed with 8p inverted duplication deletion syndrome, which might be induced by non-allelic homologous recombination between olfactory genes in the 8p23.1 region.