Zabel B, Baumann W
J Med Genet. 1981 Apr;18(2):144-6. doi: 10.1136/jmg.18.2.144.
A partial trisomy 12q243 leads to qter resulting from a maternal balanced translocation, 46,XX,t(9;12)(p243;q243) was detected in a male newborn with multiple congenital abnormalities. The maternal grandmother was also a carrier of the 9;12 translocation. Our patient exhibited a number of clinica features similar to two others reported, who were also trisomic for the distal part of 12q. Aberrations of chromosome 12 are very rare. There have been only two reports of partial trisomy 12q, both the result of a familial translocation. We describe a third unbalanced case.
一名患有多种先天性异常的男婴被检测出因母亲的平衡易位导致12号染色体长臂（12q）部分三体，核型为46,XX,t(9;12)(p243;q243)，qter区域三体。患儿的外祖母也是9;12易位的携带者。我们的患者表现出许多与另外两名已报道患者相似的临床特征，这两名患者同样是12号染色体长臂远端三体。12号染色体异常非常罕见。仅有两份关于12q部分三体的报告，均为家族性易位所致。我们在此描述第三例非平衡型病例。
