A DELETED CHROMOSOME-13 IN HUMAN RETINOBLASTOMA CELLS - RELEVANCE TO TUMORIGENESIS
A DELETED CHROMOSOME-13 IN HUMAN RETINOBLASTOMA CELLS - RELEVANCE TO TUMORIGENESIS
复制标题
DOI：
10.1016/0165-4608(81)90091-1
复制
发表时间：
1981-01-01
影响因子：
--
通讯作者：
MEADOWS, AT
中科院分区：
文献类型：
--
作者：
BALABANMALENBAUM, G;GILBERT, F;MEADOWS, AT
在这篇从人视网膜母细胞瘤肿瘤组织短期培养（72小时）后制备的带型核型的报道中，1 del（13）（pter.fwdarw. q14：）染色体和1条正常染色体#13。类似的缺失（总是涉及13q14）先前已在患有1种视网膜母细胞瘤的个体的体细胞中描述过。在本例中，体质核型是正常的。双眼肿瘤的存在表明这是视网膜母细胞瘤的遗传形式，尽管患者的家族史对这种肿瘤是阴性的。正常的体质核型认为染色体缺失是作为合子后事件发生的。肿瘤细胞的染色体众数为47，还鉴定了涉及染色体#2、#17和#20的重排。
In this report of banded karyotypes prepared after short-term culture (72 h) from human retinoblastoma tumor tissue, 1 del(13)(pter .fwdarw. q14:) chromosome and 1 normal chromosome # 13 were found in all of the metaphases examined. Similar deletions (always involving 13q14) have previously been described in the somatic cells of individuals with 1 form of retinoblastoma. In the present case, the constitutional karyotype is normal. The presence of tumors in both eyes suggests that this is the genetic form of retinoblastoma, even though the patient''s family history is negative for this tumor. The normal constitutional karyotype argues that the chromosome deletion occurred as a postzygotic event. The modal chromosome number of the tumor cells is 47 and rearrangements involving chromosomes # 2, # 17 and # 20 were also identified.