CAJ | 학술논문

目的对疑似染色体异常的婴幼儿进行细胞遗传学分析.方法抽取外周血或骨髓进行培养,对染色体进行G显带分析.结果 154例外周血中,共发现非整倍体异常20例,其中21三体占19例.发现结构异常13例,其中9号染色体变异达6例,均发生于近着丝粒区,其中包括倒位3例,缺失、插入及重复各1例.患者的主要表现包括先天性心脏病、特殊面容、脑瘫、发育不良、运动失调等.染色体多态异常20例,多数为随体缺失,其次为9号染色体的次缢痕变化.在10例疑似为白血病儿童的骨髓样品中检测到5例染色体数量或结构性异常.结论细胞遗传学分析对重症婴幼儿的病理检查具有很大的帮助.9号染色体的变异及其临床意义值得重视.
목적 대의사염색체이상적영유인진행세포유전학분석.방법 추취외주혈혹골수진행배양,대염색체진행G현대분석.결과 154예외주혈중,공발현비정배체이상20례,기중21삼체점19례.발현결구이상13례,기중9호염색체변이체6례,균발생우근착사립구,기중포괄도위3례,결실、삽입급중복각1례.환자적주요표현포괄선천성심장병、특수면용、뇌탄、발육불량、운동실조등.염색체다태이상20례,다수위수체결실,기차위9호염색체적차액흔변화.재10례의사위백혈병인동적골수양품중검측도5례염색체수량혹결구성이상.결론 세포유전학분석대중증영유인적병리검사구유흔대적방조.9호염색체적변이급기림상의의치득중시.
Objective To perform cytogenetic analysis for children,especially newborns suspected for chromosome abnormalities.Methods Peripheral blood or born marrow specimens were respectively cultured in proper media.Karyograms were analyzed following G-banding.Results Of 154 blood specimens,numerical chromosomal abnormalities were identified in 20 patients,which included 19 with trisomy 21.Structural aberrations were identified in 13 patients,among which chromosome 9 aberrations were seen in 6 cases.These included 3 inversions,1 deletion,1 insertion and 1 duplication.All aberrations were located in pericentromere region of chromosome 9 with clinical manifestations including congenital heart disease,peculiar facial appearance,paralysis,dysplasia and/or movement disorder.Chromosome polymorphisms were found in 20 patients,most of which had absence of satellites or variation of heterochromatin on chromosome 9.Of 10 bone marrow specimens from children suspected for acute leukemia,chromosome abnormalities were identified in 5 patients.Conclusion Cytogenetic analysis is useful for children featuring multiple congenital abnormalities.Chromosome 9 abnormalities and their clinical relevance should attract more attention.