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目的对智力低下的儿童群体进行细胞遗传学方向的分析,探讨儿童智力低下与染色体异常的关系。方法对3155例11岁及以下智力低下患儿进行染色体核型分析。结果 3155例智力低下患儿中,检出染色体异常2305例,异常检出率73%(2305/3155).异常核型中常染色体数目异常主要以21三体综合征为主,共2001例,占异常核型的87%(2001/2305).常染色体结构异常主要以非平衡性染色体结构异常为主,共174例,占异常核型的7.5%(174/2305);平衡性染色体结构异常65例,占异常核型的2.8%(65/2305);性染色体数目异常14例,占异常核型的0.6%(14/2305);性染色体结构异常11例,占异常核型的0.4%(11/2305)。标记染色体(mar)核型40例,占异常核型的1.7%(40/2305)。结论智力低下与染色体核型异常相关,产前诊断是避免染色体异常引起的智力低下患儿出生的重要措施。
Objective To analyze the cytogenetics of children with mental retardation and to explore the relationship between mental retardation and chromosomal abnormalities in children. Methods 3155 children with mental retardation 11 years old and below were analyzed for karyotype. Results Among 3155 children with mental retardation, 2305 cases of chromosomal abnormalities were detected, with an abnormality of 73% (2305/3155) .Among the karyotypes, the majority of abnormal chromosomes were mainly trisomy 21 with a total of 2001 cases, accounting for 87% of abnormal karyotypes (2001/2305) .Anosteotic structural abnormalities were predominantly unbalanced chromosomal structural abnormalities, a total of 174 cases, accounting for 7.5% (174/2305) of abnormal karyotype; balanced structural abnormalities of chromosome 65 Cases accounted for 2.8% (65/2305) of abnormal karyotypes, 14 cases of abnormal sex chromosomes, accounting for 0.6% (14/2305) of abnormal karyotypes, 11 cases of sex chromosome abnormalities, accounting for 0.4% of abnormal karyotypes 11/2305). Forty karyotypes of mar chromosomes were identified, accounting for 1.7% (40/2305) of the abnormal karyotypes. Conclusions Mental retardation is associated with an abnormality of chromosome karyotype. Prenatal diagnosis is an important measure to prevent the birth of children with mental retardation caused by chromosomal abnormalities.