Majewski F, Kim M A, Haberlandt W F, Niemczyk H M
Z Kinderheilkd. 1975 Sep 11;120(3):223-30.
A reciprocal translocation t (5p-;19p+) in 3 generations is reported. Three carriers with this translocation were healthy, the propositus with the same translocation showed cheilopalatochisis bilaterally, microphthalmus, coloboma of the retina and dysplasia of the hip joints. The cytogenetically unremarkable father of the propositus exhibited micropthalmus and coloboma of the disc and a bifid uvula. It was supposed that there is no correlation between caryotype and phenotype in the propositus. His abnormalities might be induced genetically by the father. The risk data for the descendants of carriers with balanced translocations are discussed.
报道了一个三代家族中的相互易位t(5p-;19p+)。三位携带此易位的个体健康,而携带相同易位的先证者表现为双侧唇腭裂、小眼畸形、视网膜缺损和髋关节发育不良。先证者细胞遗传学检查无异常的父亲表现为小眼畸形、视盘缺损和悬雍垂裂。推测先证者的核型与表型之间没有相关性。其异常可能是由父亲遗传诱导的。讨论了携带平衡易位者后代的风险数据。