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目的对10例世界首报染色体异常核型与生殖异常和新生儿畸形进行研究探讨。方法采用人外周血淋巴细胞培养,常规G显带技术进行染色体检查分析。结果发现10例罕见染色体异常,经鉴定为世界首报核型。其中有平衡易位6例,数目异常伴平衡易位1例,遗传自亲代的衍生染色体3例。结论染色体异常是自然流产及新生儿畸形,智力低下的重要原因,对有不良孕产史的夫妇进行常规染色体检查及遗传咨询具有重要的临床意义。
Objective To study the chromosomal abnormalities in karyotypes and reproductive abnormalities and neonatal deformities in 10 cases of the world’s first reported. Methods Human peripheral blood lymphocyte culture, conventional G-banding technique for chromosomal analysis. The results found that 10 cases of rare chromosomal abnormalities, identified as the world’s first report of karyotype. Among them, there were 6 cases with balanced translocation, 1 case with abnormal number and balance translocation, and 3 cases derived from parental derivative chromosomes. Conclusion Chromosomal abnormalities are an important cause of spontaneous abortion and neonatal deformity and mental retardation. It is of important clinical significance to conduct routine chromosome examination and genetic counseling for couples with poor history of pregnancy and childbirth.