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目的:研究遗传咨询患者中罗伯逊易位的发生率及其对优生优育的影响,探讨罗伯逊易位与物种进化的关系。方法:回顾2011年送检的913例外周血标本,通过染色体培养技术,G显带,显微镜下进行核型分析。结果:913例遗传咨询患者,就诊原因主要为胎儿畸形、体格或智力发育迟缓及不良孕产史等,共检出罗伯逊易位17例,检出率为1.86%(17/913),并发现罗伯逊易位家系1例,申报世界首报核型1例。结论:罗伯逊易位是导致胎儿畸形、智力低下、不良孕产史等疾病的重要原因之一,检出罗伯逊易位携带者并对他们进行生育指导是十分必要的;同时,罗伯逊易位也可为物种的进化提供选择材料。
OBJECTIVE: To study the incidence of Robertsonian translocation in genetic counseling patients and its effect on prenatal and postnatal care, and to explore the relationship between Robertsonian translocation and species evolution. Methods: A retrospective review of 913 cases of peripheral blood samples submitted in 2011, by chromosome culture technology, G band, karyotype analysis under the microscope. Results: Of the 913 patients who received genetic counseling, the main reasons for their visit were fetal malformation, physical or mental retardation, and poor history of pregnancy and childbirth. A total of 17 cases of Robertson’s translocation were detected, with a detection rate of 1.86% (17/913) 1 case of Robertson’s translocation pedigree and 1 case of the world’s first reported karyotype. Conclusion: Robertson’s translocation is one of the most important causes of fetal malformations, mental retardation and adverse pregnancy history. It is very necessary to detect Robertson’s translocation carriers and give guidance on their fertility. At the same time, Robertson’s translocation may be Provide material of choice for the evolution of species.