Kerim S, Rege-Cambrin G, Guerrasio A, Rosso C, Van Den Berghe H
Center for Human Genetics, University of Leuven, Belgium.
Cancer Genet Cytogenet. 1990 Jun;46(2):243-50. doi: 10.1016/0165-4608(90)90109-n.
Three cases of t(11;21)(q24;q11.2) myelodysplastic syndromes (MDS) showed karyotypic evolution resulting in the presence of two der(11)t(11;21) without normal chromosome 11 and with partial trisomy 21q. In one of these, we performed further molecular cytogenetic investigations which showed 1) that this rearrangement led to changes in the dosage and location of both c-ets 1 and c-ets 2 protooncogenes; and 2) that the presence of two 11q + chromosomes did not result from a nondisjunction, but that a second chromosome rearrangement had occurred. The final genetic imbalance resulting from this cytogenetic change involves at least hemizygosity for some sequences on the long arm of chromosome 11, including c-ets 1, plus trisomy for the most part of the long arm of chromosome 21, including c-ets 2.
3例t(11;21)(q24;q11.2)骨髓增生异常综合征（MDS）显示核型演变，导致出现两条der(11)t(11;21)，不存在正常的11号染色体，伴有21q部分三体。其中1例，我们进行了进一步的分子细胞遗传学研究，结果显示：1）这种重排导致原癌基因c-ets 1和c-ets 2的剂量和位置发生改变；2）两条11q +染色体的出现并非由于不分离，而是发生了第二次染色体重排。这种细胞遗传学改变导致的最终遗传失衡至少涉及11号染色体长臂上某些序列的半合子状态，包括c-ets 1，加上21号染色体长臂大部分区域的三体状态，包括c-ets 2。
