Hsu L Y, Pinchiaroli D, Gilbert H S, Wittman R, Hirschhorn K
Am J Hematol. 1977;2(4):375-83. doi: 10.1002/ajh.2830020407.
We have identified partial trisomy 1q in 2 patients with different hematologic disorders. The first patient was a 55-year-old female with myelosclerosis and myeloid metaplasia diagnosed at age 38 years presenting with anemia, fatigue, bruising, fever, and splenomegaly. At age 56, she had 50--95% myeloblast cells and 95--100 nucleated RBC precursors per 100 WBC. Chromosome analysis of unstimulated leukocytes with Q, G, and C banding showed 46,XX,-6,+t(1;6) (q25;p22) in all metaphase cells. In vitro incorporation of Fe55 was demonstrated 90% of metaphases by autoradiography. The second patient, a 49-year-old male, was diagnosed as having polycythemia vera at age 30 during a regular checkup. He since developed hepatosplenomegaly. Chromosome analysis from a direct bone marrow preparation at age 44 and 45 showed grossly normal karyotypes. At age 49, his marrow by Q and G banding showed almost 100% of cells with 46,XY,-13,+t(1;13) (q12;p12). Eleven cases of trisomy of 1q have been reported in various hematologic disorders. It is apparent that partial trisomy 1q represents another nonrandom chromosomal abnormality, in addition to the most common nonrandom chromosomal aberrations, such as the Philadelphia chromosome, trisomy 8, trisomy 9, and monosomy 7 in hematologic disorders.
我们在2例患有不同血液系统疾病的患者中发现了1q部分三体。首例患者为一名55岁女性，38岁时被诊断为骨髓硬化症和髓样化生，表现为贫血、疲劳、瘀斑、发热和脾肿大。56岁时，她每100个白细胞中有50 - 95%的成髓细胞和95 - 100个有核红细胞前体。用Q、G和C显带技术对未刺激的白细胞进行染色体分析，所有中期细胞均显示为46,XX,-6,+t(1;6)(q25;p22)。通过放射自显影在90%的中期细胞中证实了Fe55的体外掺入。第二例患者为一名49岁男性，30岁时在一次常规检查中被诊断为真性红细胞增多症。此后他出现了肝脾肿大。44岁和45岁时直接骨髓涂片的染色体分析显示核型大致正常。49岁时，他的骨髓经Q和G显带分析显示几乎100%的细胞为46,XY,-13,+t(1;13)(q12;p12)。在各种血液系统疾病中已报道了11例1q三体病例。显然，除了血液系统疾病中最常见的非随机染色体畸变，如费城染色体、8三体、9三体和7单体之外，1q部分三体代表了另一种非随机染色体异常。
