Pasquali F, Francesconi D, Casalone R, Ippoliti G
Hum Genet. 1979 Jul 18;49(3):277-282. doi: 10.1007/BF00569347.
A patient with chronic myelocytic leukaemia (CML) had the Philadelphia chromosome from the standard 9/22 translocation, a partial trisomy 1 secondary to an unbalanced 1/17 translocation, and a more recent clone with the addition of trisomy 22. This is the third case of partial trisomy 1 associated with the Philadelphia chromosome. Trisomy 1 in haematological disorders is discussed with reference to its clinical significance in CML, the segment of chromosome no. 1 involved, and the mechanism of origin of the partial trisomies. Anomalies of chromosome 1, although not specific to any of them, seem to be important in the development of myeloproliferative disorders and of neoplasms in general.
一名慢性粒细胞白血病（CML）患者具有源自标准9/22易位的费城染色体、继发于不平衡1/17易位的1号染色体部分三体，以及一个较新的伴有22号染色体三体的克隆。这是第三例与费城染色体相关的1号染色体部分三体病例。结合其在慢性粒细胞白血病中的临床意义、所涉及的1号染色体片段以及部分三体的起源机制，对血液系统疾病中的1号染色体三体进行了讨论。1号染色体异常虽然并非任何一种疾病所特有，但似乎在骨髓增殖性疾病及一般肿瘤的发生发展中具有重要意义。
