CAJ | 학술논문

目的探讨1例智力低下、生长发育迟缓并伴有多系统紊乱的患儿的遗传学原因,分析患儿基因组拷贝数变异(copy number variations,CNVs)及其所含基因与临床表型的关系.方法用常规G显带技术分析患儿及其父母外周血染色体核型,之后应用单核苷酸多态微阵列技术(single nucleotide polymorphisms array,SNP-array)对患儿进行全基因组扫描分析,进而采用荧光原位杂交技术(fluorescence in situ hybridization,FISH)进行实验验证.结果患儿及其父母的外周血常规染色体核型分析未见异常.SNP-array分析结果显示7q11.23区域杂合性缺失,长度为1673 kb,其缺失与Williams-Beuren综合征相关.FISH实验结果验证了此微缺失的存在,并通过检测其父母FISH结果,证实为一种新发的缺失.结论用SNP-array结合FISH技术确诊了1例Williams-Beuren综合征,患儿的临床表型与其染色体微缺失的片段7q11.23相关.与传统的细胞遗传学分析方法相比,SNP-array在临床检测不明原因智力低下、发育迟缓患者中具有显著优势.
목적 탐토1례지력저하、생장발육지완병반유다계통문란적환인적유전학원인,분석환인기인조고패수변이(copy number variations,CNVs)급기소함기인여림상표형적관계.방법 용상규G현대기술분석환인급기부모외주혈염색체핵형,지후응용단핵감산다태미진렬기술(single nucleotide polymorphisms array,SNP-array)대환인진행전기인조소묘분석,진이채용형광원위잡교기술(fluorescence in situ hybridization,FISH)진행실험험증.결과 환인급기부모적외주혈상규염색체핵형분석미견이상.SNP-array분석결과현시7q11.23구역잡합성결실,장도위1673 kb,기결실여Williams-Beuren종합정상관.FISH실험결과험증료차미결실적존재,병통과검측기부모FISH결과,증실위일충신발적결실.결론 용SNP-array결합FISH기술학진료1례Williams-Beuren종합정,환인적림상표형여기염색체미결실적편단7q11.23상관.여전통적세포유전학분석방법상비,SNP-array재림상검측불명원인지력저하、발육지완환자중구유현저우세.
Objective To explore the genetic cause for a child with mental retardation,developmental delay and multi-systemic developmental disorders by analyzing the copy number variations (CNVs) and correlating the genotype with the phenotype.Methods Routine G-banding was performed to analyze the karyotype of the patient and her parents.In addition,single nucleotide polymorphisms array (SNP-array) was used to determine the CNVs,which was confirmed by fluorescence in situ hybridization (FISH).Results No karyotypic abnormality was detected upon chromosome analysis.However,SNP-array has identified a de novo hemizygous deletion of 1673 kb on chromosome region 7q11.23,which has been associated with Williams-Beuren syndrome.The microdeletion was confirmed by FISH testing.Conclusion A child with Williams-Beuren syndrome has been diagnosed by SNP-array and FISH.The de novo 7q11.23 mierodeletion probably underlies the clinical manifestation of the patient.Compared with routine karyotype analysis,SNP-array is more useful for diagnosing children with multiple congenital anomalies with unclear etiology.