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目的探讨666例智力障碍儿童异常染色体的核型分析。方法常规外周血淋巴细胞染色体检查。结果与结论1014例中共发现染色体正常(320-550条带阶段未见染色体异常)的350例,染色体异常666例,占全部受检病例的65.7%(666/1014),其中各种类型的21三体综合征(Down’s)644例,占染色体异常核型的96.7%(644/666),其中有1例47,XY,+21,t(2;5)为世界首报核型。其余异常核型分别涉及到2、3、5、7、8、9、10、12、13、14、15、16、18、22号染色体共20例。表明引起儿童智力障碍染色体异常是重要原因,而Down’s综合征又是染色体异常中最主要的原因,达96.7%。
Objective To investigate the karyotype analysis of abnormal chromosomes in 666 children with mental retardation. Methods routine peripheral blood lymphocyte chromosome examination. RESULTS AND CONCLUSION: In the 1014 cases, there were 350 cases of chromosomal abnormality (320-550 stages without chromosome abnormalities), 666 cases of chromosomal abnormalities, accounting for 65.7% (666/1014) of the total cases examined, in which 21 cases of various types 644 cases of Down’s accounted for 96.7% (644/666) of the chromosomal abnormal karyotypes, of which 1 case 47, XY, + 21, t (2; 5) was the world’s first reported karyotype. The rest of the abnormal karyotype involving chromosomes 2, 3, 5, 7, 8, 9, 10, 12, 13, 14, 15, 16, 18 and 22 respectively. Show that the cause of mental retardation in children is an important cause of chromosomal abnormalities, and Down’s syndrome is the most common cause of chromosomal abnormalities, up to 96.7%.