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染色体相互易位t(4;7)及t(5;8)2例报告

田莉,周新,李黎,李霞,鲁敏翔

MEDICAL JOURNAL WUHAN UNIVERSITY（2002）

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Abstract
例1 男,4岁,第2胎,生长发育迟缓,智力发育障碍,呼吸道反复感染,因尿道下裂来我院泌尿外科就诊.患儿父母非近亲结婚,另生有一女(6岁),生长发育正常.细胞遗传学检查:外周血淋巴细胞培养制备染色体,常规G带核型分析.患儿核型为46,XY,t(4;7)(4pter → 4q21∷7p15→7pter;7qter→7p15∷4q21→4qter)(ISCN1995),见图1,核型异常.父母、姐姐核型均正常.
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