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目的探讨罗伯逊易位患者对优生优育的影响,从而降低出生缺陷患儿出生。方法采用2012-2014年由我院门诊送检的13 465例外周血标本,通过常规细胞遗传学外周血淋巴细胞培养,G显带,利用染色体分析软件进行核型分析。结果 13 465例遗传咨询患者中,共检出罗伯逊易位65例,检出率为0.48%,就诊患者主要临床表现为习惯性流产,不孕、闭经、无精子症等。结论罗伯逊易位是造成胎儿畸形,智力低下以及反复流产等疾病的主要原因,有不良孕产史的夫妇通过细胞遗传咨询进行生育指导是十分必要的。
Objective To investigate the influence of Robertsonian translocation patients on prenatal and postnatal care so as to reduce the birth of children with birth defects. Methods A total of 13 465 peripheral blood samples were collected from outpatient clinics in our hospital from 2012 to 2014. The karyotypes were analyzed by chromosome analysis software by routine cytogenetic peripheral blood lymphocyte culture and G-banding. Results Among 13 465 cases of genetic counseling, Robertson’s translocation was detected in 65 cases with a detection rate of 0.48%. The main clinical manifestations of the patients were habitual abortion, infertility, amenorrhea and azoospermia. Conclusion Robertson’s translocation is the main cause of fetal malformations, mental retardation and recurrent miscarriage. Couples with poor history of pregnancy and childbirth are advised to give birth through cytogenetic counseling.