2号染色体长臂远端重复：两例家族性病例报告及对一种综合征的定义尝试
Distal 2q duplication: report of two familial cases and an attempt to define a syndrome.
作者信息
Zankl M, Schwanitz G, Schmid P, Zankl H, Dockter G, Rodewald A, Zang K D, Grosse K P
出版信息
Am J Med Genet. 1979;4(1):5-16. doi: 10.1002/ajmg.1320040103.
Two cases of partial trisomy 2q are described, both resulting from a balanced translocation in one of the parents. In one case the chromosomes 2 and 11 were involved [paternal karyotype: 46,XY,t(2;11)(q33;q23)]; in the second case, chromosomes 2 and 8 [paternal karyotype: 46,XY, t(2;8(q32;p23)]. When the two patients were compared to the few cases reported in the literature, it was concluded that the associated clinical syndrome is characterized by severe psychomotor retardation and relatively mild abnormalities involving skull and facies.
本文描述了两例2q部分三体综合征患者，二者均源于一方父母的平衡易位。其中一例涉及2号和11号染色体[父本核型：46,XY,t(2;11)(q33;q23)]；另一例涉及2号和8号染色体[父本核型：46,XY, t(2;8(q32;p23)]。将这两名患者与文献中报道的少数病例进行比较后得出结论，相关临床综合征的特征为严重精神运动发育迟缓以及涉及颅骨和面部的相对轻微异常。
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