Aledo R, Aurias A, Chrétien B, Dutrillaux B
Institut Curie, Section de Biologie, Paris, France.
Cancer Genet Cytogenet. 1988 Jul 1;33(1):29-33. doi: 10.1016/0165-4608(88)90046-5.
The cytogenetic study of a case of cutaneous squamous cell carcinoma developed in a child affected by xeroderma pigmentosum is described. In this paratetraploid tumor, virtually all mitoses had the following rearrangements: i(1q), i(1p), t(3q14q), del(9p), and der(19)t(8;19). In addition, there were several deletions of 1p and 1q. The del(9p) likely occurred as the first rearrangement. The distal segment of the short arm of chromosome #9 and the long arm of #19 and #22 were the most underrepresented and chromosome #6 the most overrepresented chromosome or chromosome segment. The most striking anomaly detected was a jumping translocation of chromosome #14, involved with chromosomes #1, #3, #5, #7, #9, #14, and #22. The breakage of chromosome #14 always occurred on the short arm.
描述了一名患有着色性干皮病的儿童发生的皮肤鳞状细胞癌病例的细胞遗传学研究。在这个亚四倍体肿瘤中，几乎所有有丝分裂都有以下重排：i(1q)、i(1p)、t(3q14q)、del(9p)和der(19)t(8;19)。此外，还有1p和1q的多处缺失。del(9p)可能是首次重排。9号染色体短臂的远端片段以及19号和22号染色体的长臂是代表性最低的，而6号染色体是代表性最高的染色体或染色体片段。检测到的最显著异常是14号染色体的跳跃易位，涉及1号、3号、5号、7号、9号、14号和22号染色体。14号染色体的断裂总是发生在短臂上。
