Zollinger A, Schmid W, Vilan J, Sorg B, Knoblauch M
Schweiz Med Wochenschr. 1983 Feb 19;113(7):238-44.
Description of the first Swiss family with the new syndrome of X-linked mental retardation. The three brothers described are the first of all males traced back for four generations to be affected. In two of the brothers macroorchidism and the fragile X-chromosome were demonstrated, while the third brother died before diagnosis. As expected, the fragile X was not demonstrable in the 75-year-old mother of the three brothers.
首例患X连锁智力迟钝新综合征的瑞士家族描述。所描述的三兄弟是四代男性中最先受影响的。其中两兄弟被证实有巨睾症和脆性X染色体，而第三个兄弟在诊断前死亡。不出所料，三兄弟75岁的母亲未检测到脆性X染色体。
