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目的:探讨出生缺陷患儿与染色体核型之间的关系。方法:常规外周静脉血染色体培养、G显带分析493例出生缺陷患儿染色体核型。结果:检出染色体异常核型178例,检出率36.11%(178/493)。其中数目异常核型150例,占异常核型检出例数的84.27%(150/178),结构异常核型28例,占异常核型检出例数的15.73%(28/178),数目异常以21-三体综合征为主,占异常核型检出例数的76.40%,结构异常以易位型为主,占异常核型检出例数的5.62%,Turner综合征、缺失、平衡易位、大Y等各异常核型占异常核型检出例数的17.98%;并伴有不同程度的智力低下、发育迟缓、先天畸形等临床表现。结论:优生遗传咨询是筛查遗传病的一种有效手段,细胞遗传学是诊断染色体病的重要方法,为预防出生缺陷进行染色体检查具有非常重要的意义。
Objective: To explore the relationship between chromosomal karyotype and children with birth defects. Methods: Routine peripheral venous blood chromosomal culture, G banding analysis of 493 cases of birth defects in children with chromosomal karyotype. Results: There were 178 cases of chromosomal aberration karyotype detected, the detection rate was 36.11% (178/493). Among them, there were 150 cases of abnormal karyotype, accounting for 84.27% (150/178) of cases of abnormal karyotype, 28 cases of abnormal karyotype, accounting for 15.73% (28/178) of cases of abnormal karyotype, the number The abnormalities were mainly 21-trisomy, accounting for 76.40% of the cases with abnormal karyotypes. The major structural abnormalities were translocations, accounting for 5.62% of the cases with abnormal karyotypes. Turner’s syndrome, Balanced translocation, large Y and other abnormal karyotype accounted for 17.98% of the number of abnormal karyotype detected; accompanied by varying degrees of mental retardation, growth retardation, congenital malformations and other clinical manifestations. Conclusion: The eugenics genetic counseling is an effective method to screen genetic diseases. Cytogenetics is an important method to diagnose chromosomal diseases. It is of great importance to carry out chromosome examination for preventing birth defects.