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11号与22号染色体长臂之间的易位t(11q;22q)是一种比较常见的染色体异常。在不平衡易位时,它导致22号长臂的部分三体性,但患者的临床表现和文献中报告的易位断点的位置均很多样。本文对来自三个家系的3名易位携带者的外周血培养细胞染色休进行了常规和高分辨显带分析,结果发现3名携带者易位染色体的构成均为t(11q25;22ql3.1)。因此,在复习和汇总文献资料的基础上,提出此种易位目前至少可区别11q23;22qll与llq25,;22ql3两种主要细胞遗传学亚型。
The translocation t (11q; 22q) between the long arms of chromosomes 11 and 22 is a common chromosomal abnormality. When unbalanced translocations led to partial trisomy 22, the clinical presentation of the patient and the location of the translocated breakpoints reported in the literature varied. In this study, we performed conventional and high-resolution banding analysis of the peripheral blood cells of three translocation carriers from three pedigrees. The results showed that all the three translocations had t (11q25; 22ql3.1 ). Therefore, on the basis of reviewing and summarizing the literature data, it is proposed that such translocation can distinguish at least two main cytogenetic subtypes of 11q23; 22qll, llq25; and 22ql3 at present.