CAJ | 학술논문

目的明确1例智力低下患儿染色体异常的性质和来源,分析其染色体改变与表型的对应关系.方法用常规G显带分析患儿及父母外周血的染色体改变,然后应用比较基因组杂交芯片( array comparative genomic hybridization,aCGH)常规核型分析结果进行精确定位.结果患儿父亲的染色体改变为7q和14q的平衡易位,患儿继承了父亲的1条衍生14号染色体,核型为46,XY,der(14)t(7; 14)(q34；q32) pat,导致7q部分三体和14q部分单体.aCGH分析显示重复区域为7q34-qter,片段大小为17.09 Mb,缺失区域为14q32.33-qter,片段大小为2.27 Mb.患儿主要表现为智力低下、低出生体重、小鼻、腭裂、耳位低、短颈等7q部分三体常见的临床特征.结论 7q部分三体是患儿异常表型的主要原因；父母染色体分析可以明确染色体异常的来源和性质.
목적 명학1례지력저하환인염색체이상적성질화래원,분석기염색체개변여표형적대응관계.방법 용상규G현대분석환인급부모외주혈적염색체개변,연후응용비교기인조잡교심편( array comparative genomic hybridization,aCGH)상규핵형분석결과진행정학정위.결과 환인부친적염색체개변위7q화14q적평형역위,환인계승료부친적1조연생14호염색체,핵형위46,XY,der(14)t(7; 14)(q34；q32) pat,도치7q부분삼체화14q부분단체.aCGH분석현시중복구역위7q34-qter,편단대소위17.09 Mb,결실구역위14q32.33-qter,편단대소위2.27 Mb.환인주요표현위지력저하、저출생체중、소비、악렬、이위저、단경등7q부분삼체상견적림상특정.결론 7q부분삼체시환인이상표형적주요원인；부모염색체분석가이명학염색체이상적래원화성질.
Objective To determine the origin of chromosomal aberrants in a mentally retarded children,and to correlate the karyotype with phenotype.Methods Routine G-banding were performed to analyze the karyotype of the patient and her parents,and array comparative genomic hybridization (array CGH) were used for finely mapping the aberrant regions.Results The mother had a normal karyotype.The father had an apparently balanced translocation involving chromosome 7q and 14q,the karyotype was 46,XX,t (7 ; 14) (q34 ; q32),t he karyotype of the child was then ascertained as 46,XX,der( 14 ) t ( 7 ; 14) ( q34 ;q32.33) pat.Array CGH finely mapped the duplication to 7q34-qter,a 17.09 Mb region,and a very small associated deletion of distal chromosome 14 to 14q32.33-qter,a 2.27 Mb region.The patient presented some frequently seen features in partial trisomy 7q cases such as mental retardation,low birth weight,small nose,cleft palate,low-set ears and short neck.Conclusion This result suggested that partial trisomy 7q exert mainly phenotypic effect on the patient.Parental karyotype analysis could help define the aberrant type.