Geraedts J P, Leschot N J, Veenema H
Clin Genet. 1985 Jul;28(1):36-41. doi: 10.1111/j.1399-0004.1985.tb01215.x.
A large family with an inherited reciprocal translocation (16;21) is described. An unbalanced karyotype due to adjacent-1 segregation was documented in 6 cases, whereas 25 children dying within the first year of life and 4 individuals dying at later ages probably had the same abnormality. Therefore minimal and maximal risk estimates were calculated to be 6.0% and 26.5% for female, respectively, 4.8% and 33.3% for male translocation heterozygotes. Among the karyotyped phenotypically normal offspring of male as well as female carriers the ratio of normal children to balanced carriers was not different from 1:1.
本文描述了一个患有遗传性相互易位（16；21）的大家庭。记录显示，6例患者因邻位-1分离出现了不平衡核型，而25名在出生后第一年内死亡的儿童和4名在稍大年龄死亡的个体可能也存在相同的异常情况。因此，计算得出女性最小和最大风险估计值分别为6.0%和26.5%，男性易位杂合子的最小和最大风险估计值分别为4.8%和33.3%。在男性和女性携带者的核型正常且表型正常的后代中，正常儿童与平衡携带者的比例与1:1无异。
