Andrle M, Erlach A, Rett A
Wien Klin Wochenschr. 1981 Jan 9;93(1):16-9.
A family with three retarded children is described. The phenotypical features of the eldest girl are uncharacteristic, whereas both other girls show the typical symptoms of the Cri-du-chat syndrome. Cytogenetic examination showed a balanced translocation t (3,5) in the father and partial trisomy 5 p and monosomy 5 p in the two surviving daughters.
本文描述了一个有三个智力发育迟缓孩子的家庭。大女儿的表型特征不典型,而另外两个女孩表现出典型的猫叫综合征症状。细胞遗传学检查显示,父亲存在平衡易位t(3,5),两个存活的女儿存在5号染色体短臂部分三体和部分单体。