Sanger W G, Howe J, Fordyce R, Purtilo D T
Cancer Genet Cytogenet. 1984 Feb;11(2):153-9. doi: 10.1016/0165-4608(84)90109-2.
The proband in this study had multiple congenital malformations and a constitutional 46,XY,-13, + der(13),t(13;15)(q34;q23)mat chromosome complement. A bone marrow aspirate revealed neuroblastoma, and cytogenetic studies on tumor cells revealed, in addition to the partial trisomy #15 and probable partial monosomy #13, hypotetraploidy with a mean chromosome number of 82-84, including 3 or 4 copies of each autosome, 2 X chromosomes, no Y chromosome, and a marker. Translocations involving chromosomes #1, #2, #3, #7, and #14 were present, along with multiple double minutes. The possibility that the inherited partial trisomy #15 (and/or partial chromosome #13 monosomy) predisposed to neuroblastoma and additional chromosome changes in this tumor is discussed.
本研究中的先证者患有多种先天性畸形,其染色体组成为46,XY,-13, + der(13),t(13;15)(q34;q23)mat。骨髓穿刺显示为神经母细胞瘤,对肿瘤细胞的细胞遗传学研究表明,除了部分15号染色体三体和可能的部分13号染色体单体外,还存在亚四倍体,平均染色体数为82 - 84条,包括每条常染色体有3或4份拷贝、2条X染色体、无Y染色体以及一个标记染色体。存在涉及1号、2号、3号、7号和14号染色体的易位,以及多个双微体。本文讨论了遗传性部分15号染色体三体(和/或部分13号染色体单体)易患神经母细胞瘤以及该肿瘤中其他染色体变化的可能性。