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在我室进行外周血淋巴细胞染色体检查507例中发现一例不育症患者染色体核型为t(6:16)平衡易位。经请医学遗传国家培训中心细胞遗传研究室夏家辉主任,李麓云副主任鉴定并查阅国内外资料未见有报导,属世界首报。现简要报告如下: 资料①患者××,编号477,男性,31岁,因结婚五年爱人不孕,1986年2月22日来我室就诊。患者发育正常,营养中等,身高169cm,体重60kg,表型正常,精液常规检查正常。染色体检查结果,经外周血淋巴细胞培养G显带核型分析发现为t(6:16)平衡易位。计数患者50个细胞,核型分析5个细胞,为46,XY,t(6:16)(6p~(ter)→6q~(21)::16p~(13)→16p~(ter),16q~(ter)→16p~1::6q~(21)→
In my room for peripheral blood lymphocyte chromosome examination in 507 cases found an infertility patients with karyotype t (6:16) balanced translocation. After invited by National Institute of Hepatology, National Institute of Hepatology, Institute of Cytogenetics, Xia Jiahui, deputy director Li Luyun appraisal and access to information at home and abroad have not been reported, is the world’s first reported. Now brief report is as follows: Information ① patient × ×, number 477, male, 31 years old, married five years due to love infertility, February 22, 1986 to my room. Patients with normal development, moderate nutrition, height 169cm, weight 60kg, normal phenotype, normal routine examination of semen. Chromosomal test results revealed a t (6:16) equilibrium translocation based on G-banding karyotype analysis of peripheral blood lymphocytes. Fifty cells of patients were counted, and five cells of karyotype were analyzed. The results of karyotype analysis were as follows: 46, XY, t (6:16) (6p ~ (ter) → 6q ~ (21) :: 16p ~ (13) → 16p ~ 16q ~ (ter) → 16p ~ 1 :: 6q ~ (21) →