Aurias A, Dutrillaux B
Ann Genet. 1986;29(3):203-6.
Peri- and paracentric inversions are observed in human leukocytes at various rates. Four categories are proposed, in relation to the frequency of occurrence, although it may vary with time for a same inversion. Category 1 corresponds to isolated, thus non recurrent inversions. Category 2 (f congruent to .001) corresponds to inv(14)(q12qter) and inv(7)(p14q35) in individuals with presumably normal genetic constitution. Category 3 (f congruent to .01) corresponds to inv(7)(p14q35) in patients affected by ataxia telangiectasia (AT). This inversion, when it is frequent, indicates an abnormal genetic constitution, radiation sensitive and predisposing to cancers. Finally, category 4 (f greater than or equal to .1) corresponds to inversions existing in precancer or in cancer clonal cells: inv(14)(q11.2q32.2) in AT patients affected by a T-cell hemopathy, inv(14)(q12qter) in chronic T-cell lymphocytic leukaemia, and inv(16)(p13q22) in acute myelomonocytic leukaemia with abnormal eosinophils. The prognostic and diagnostic interests of these inversions is discussed.
在人类白细胞中观察到不同频率的臂内和臂间倒位。根据发生频率提出了四类，尽管同一倒位的频率可能随时间变化。第1类对应于孤立的、因此是非复发性倒位。第2类（f≈0.001）对应于遗传构成可能正常的个体中的inv(14)(q12qter)和inv(7)(p14q35)。第3类（f≈0.01）对应于患有共济失调毛细血管扩张症（AT）的患者中的inv(7)(p14q35)。这种倒位如果频繁出现，表明遗传构成异常、对辐射敏感且易患癌症。最后，第4类（f≥0.1）对应于癌前或癌克隆细胞中存在的倒位：患有T细胞血液病的AT患者中的inv(14)(q11.2q32.2)、慢性T细胞淋巴细胞白血病中的inv(14)(q12qter)以及伴有异常嗜酸性粒细胞的急性粒单核细胞白血病中的inv(16)(p13q22)。讨论了这些倒位在预后和诊断方面的意义。
