Juberg R C, Stallard R, Mowrey P, Valido C L
Hum Genet. 1983;64(3):216-21. doi: 10.1007/BF00279396.
A normal cell line arising from a translocation, t(12;21), possibly by dissociation, was observed in two brothers in early life. Each was conceived as trisomic 21 by their 45,XY,-12,-21,+t(12;21) father, who was phenotypically normal. Each brother showed morphologic manifestations of trisomy 21 syndrome, and each was mildly mentally retarded. Dermatoglyphic indices were not diagnostic of trisomy 21 syndrome. At 4 months the younger brother had a 50:50 proportion of trisomic:normal blood cells which became 25:75 of trisomic 21:normal at 36 months. The older brother had a 25:75 proportion of trisomic 21:normal when first studied at 41/2 years. A similar t(12;21) has not previously been reported. The occurrence of an apparently normal cell line arising spontaneously is unique.
在两名兄弟幼年时观察到一种可能由解离产生的源自t(12;21)易位的正常细胞系。他们的父亲核型为45,XY,-12,-21,+t(12;21),表型正常,每个孩子在受孕时都被认为是21三体。每个兄弟都表现出21三体综合征的形态学表现,且都有轻度智力障碍。皮纹学指标不能诊断21三体综合征。年幼的弟弟在4个月时三体细胞与正常血细胞的比例为50:50,在36个月时变为25:75。年长的哥哥在4.5岁首次研究时三体21细胞与正常细胞的比例为25:75。此前尚未报道过类似的t(12;21)。自发出现明显正常的细胞系这种情况很独特。