目的 探讨罗伯逊易位携带者的核型分布特征和临床表现.方法 采用外周血淋巴细胞培养法培养72 h,G显带,Giemsa染色,显微镜下计数30个分裂相,综合分析3～5个核型.结果 18例携带者中罗伯逊易位类型并非随机分布,其中rob (13q; 14q)9例,占50％,rob (14q；21q)4例,占22.2％.在本组资料中女性13例,男性5例,男女比例0.38:1.其中成年携带者13例,儿童5例.在13例成年携带者中,夫妻一方有习惯性流产史者11例,平均流产率为84.6％,流产1～6次,平均流产2.4次,另有2例表现为不孕.在临床上罗伯逊易位携带者除表现为习惯性流产外,还可表现为不孕、闭经、无精症等.结论 夫妻一方为罗伯逊易位携带者是造成反复流产、不孕、男性少精、无精或畸形精子、易位型21三体患儿出生的主要遗传学原因之一,不同类型的罗伯逊易位携带者在临床上的表现会有很大差异,在日常遗传咨询工作中应根据不同情况告知生育风险,并在知情同意的情况下告知可通过辅助生殖技术或者产前诊断来减少罗伯逊易位携带者出生的机会.%Objective To study the karyotype distribution characteristics and clinical manifestations of the robertsonian translocation carriers. Methods Samples were cultured for 72 hours by peripheral blood lymphocyte, followed by giemsa staining. Then 30 split-phase were counted under microscope and 3-5 karyotype chromosomes were analyzed. Results In the 18 cases, the karyotype of robertsonian translocation were not randomly distributed, including 9 cases of rob (13q;14q), accounting for 50%, and 4 cases of rob (14q; 21q), accounting for 22.2%. In this group, there were 13 females and five males, with the male to female ratio of 0.38:1. Thirteen of the 18 carriers were adults, while 5 were children. In the 13 adult carriers, 11 had history of habitual abortion in one of the spouses, with the average abortion rate of 84.6%, for 1-6 times, 2.4 times in average. The other two carriers manifested as infertility. In clinical practice, Robertsonian translocation carriers tended to have habitual abortion, infertility, amenorrhea, azo-ospermia or abnormal sperm. Conclusion Robertsonian translocation was the main cause for habitual abortion, infertility, male oligospermia, azoospermia or abnormal sperm, and 21 three-body syndrome. Carriers with different types of Robertsonian translocation may have manifestations vary significantly. In day-to-day genetic counseling, the carriers should be informed the reproductive risks based on different situations, and that assisted reproductive technology or prenatal diagnosis can be applied to reduce the chance of birth of baby carrying robertsonian translocation.
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