CAJ | 학술논문

目的明确1例多发畸形患儿染色体拷贝数变异的性质及来源,分析其染色体变异与表型的相关性.方法首先应用常规G显带分析该例患儿及父母外周血染色体核型,然后应用比较基因组杂交芯片(array comparative genomic hybridization,array CGH)技术对该例常规核型分析的结果进行精确定位.结果该患几常规核型分析为46,XY.array CGH结果为del(5) (p15.2p15.33)区段存在14.21 Mb缺失；dup(5) (q35.3)区段存在3.67 Mb重复.临床表现为智力低下、特殊面容、同时伴有小头畸形、先天性心脏病及脚趾畸形等.患儿父母亲染色体核型正常.结论 5号染色体拷贝数变异可导致患儿出现多发畸形；与传统的细胞遗传学分析方法相比,array CGH在染色体异常分析中具有更高的分辨率和准确性.
목적 명학1례다발기형환인염색체고패수변이적성질급래원,분석기염색체변이여표형적상관성.방법 수선응용상규G현대분석해례환인급부모외주혈염색체핵형,연후응용비교기인조잡교심편(array comparative genomic hybridization,array CGH)기술대해례상규핵형분석적결과진행정학정위.결과 해환궤상규핵형분석위46,XY.array CGH결과위del(5) (p15.2p15.33)구단존재14.21 Mb결실；dup(5) (q35.3)구단존재3.67 Mb중복.림상표현위지력저하、특수면용、동시반유소두기형、선천성심장병급각지기형등.환인부모친염색체핵형정상.결론 5호염색체고패수변이가도치환인출현다발기형；여전통적세포유전학분석방법상비,array CGH재염색체이상분석중구유경고적분변솔화준학성.
Objective To determine the origin of chromosomal aberration for a child featuring multiple malformation,and to correlate the genotype with phenotype.Methods Routine G-banding was performed to analyze the karyotype of the patient and her parents,and array comparative genomic hybridization (array CGH) was used for fine mapping of the aberrant region.Results The karyotype of the child was ascertained as 46,XY.Array CGH has mapped a 14.21 Mb deletion to 5p15.2p15.33,and a very small 3.67 Mb duplication to 5q35.3.The patient has presented features such as mental retardation,heart defect,low-set ears,hypertelorism and down-slanting palpebral fissures.Conclusion Chromosome 5 copy number variation can cause multiple malformation.In contrast to routine karyotype analysis,array CGH can map aberrant region with much higher resolution and accuracy.