Fryns J P, Kleczkowska A, Van den Berghe H
J Genet Hum. 1987 Jan;35(1):47-50.
Excess of mental retardation and/or congenital malformations in reciprocal translocations in man. A difficult problem in genetic counselling: In this report the Leuven experience (1970-1984) on reciprocal translocations is summarized. A total number of 154 unrelated index-patients, carriers of different types of reciprocal translocations, and their families were investigated. The excess of MR/CM in de novo and familial balanced translocation carriers is illustrated and discussed.
人类相互易位中智力迟钝和/或先天性畸形过多。遗传咨询中的一个难题:本报告总结了鲁汶(1970 - 1984年)关于相互易位的经验。共调查了154名无关的索引患者、不同类型相互易位的携带者及其家庭。对新生和家族性平衡易位携带者中智力迟钝/先天性畸形过多的情况进行了说明和讨论。