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目的探讨本地区智力障碍及先天畸形患儿与染色体异常及多态性之间的关系,为临床患儿的诊疗及预防提供科学依据。方法对582例由于智力障碍或先天畸形在我院行外周血淋巴细胞培养及染色体核型分析结果进行回顾性分析。结果 582例患儿中共检出染色体异常273例,检出率为46.91%(273/582)。其中数目异常251例,占91.94%(251/273),检出单纯型21三体235例,检出率为40.38%(235/582)。结构异常22例,占8.06%(22/273)。此外,检出多态核型21例,检出率为3.61%(21/582)。结论染色体异常是导致儿童智力障碍及先天畸形的主要原因之一。部分染色体多态性与智力障碍儿童存在关联。临床上为患儿进行染色体检查可有效明确其病因。
Objective To explore the relationship between chromosomal abnormalities and polymorphisms in children with mental retardation and congenital malformations in our region and to provide a scientific basis for clinical diagnosis and treatment of children. Methods A retrospective analysis of 582 cases of peripheral blood lymphocyte culture and chromosome karyotype analysis in our hospital due to mental retardation or congenital malformations was performed. Results A total of 273 chromosomal abnormalities were detected in 582 children, the detection rate was 46.91% (273/582). The number of anomalies was 251 cases, accounting for 91.94% (251/273). A total of 235 cases of 21 trisomy 21 were detected. The detection rate was 40.38% (235/582). 22 cases of structural abnormalities, accounting for 8.06% (22/273). In addition, 21 cases of polymorphic karyotype were detected, the detection rate was 3.61% (21/582). Conclusion Chromosomal abnormalities are one of the main causes of mental retardation and congenital malformation in children. Some chromosomal polymorphisms are associated with children with mental retardation. Clinically for children with chromosomal examination can effectively identify the cause.