Kuznetsova L E, Pogosiants E E, Muratova T T, Kozlovskaia G M
Genetika. 1985 Feb;21(2):321-6.
Cytogenetic analysis of 15 retinoblastomas developed in children having no constitutional chromosome 13 deletion has been carried out. In tumor cells, no deletion or loss of chromosome 13 was revealed. The specific marker chromosome i(6p) described in our previous publications has been found in 9 tumors. Besides, in two cases, trisomy of short arm of chromosome 6 was present. Other non-random changes (trisomy 1q, monosomy 16 and loss of one of the sex chromosomes) were not specific for retinoblastomas, because they were described in literature for some other tumors as well. The possible significance for genesis of retinoblastomas of dose multiplication of the genes located in the 6p is discussed.
对15例在无13号染色体先天性缺失的儿童中发生的视网膜母细胞瘤进行了细胞遗传学分析。在肿瘤细胞中，未发现13号染色体的缺失或丢失。在9个肿瘤中发现了我们先前出版物中描述的特异性标记染色体i(6p)。此外，在2例中存在6号染色体短臂三体。其他非随机变化（1q三体、16号染色体单体和一条性染色体丢失）并非视网膜母细胞瘤所特有，因为在文献中也有其他一些肿瘤有相关描述。讨论了位于6p的基因剂量倍增对视网膜母细胞瘤发生的可能意义。
