Cabrol C, Werner-Favre C, Wyss M, Pitmon D, Engel E
Cancer Genet Cytogenet. 1983 Jan;8(1):67-74. doi: 10.1016/0165-4608(83)90065-1.
A congenital chromosome abnormality was found in two unrelated children with acute lymphoblastic leukemia (ALL). In the first case, a pericentric inversion of chromosome No. 11, inv(11)(p15q13), was observed and discovered to be familial, being present in five other members of the family over two generations. In the second case, the presence of a congenital ring chromosome No. 21, 46,XX,r(21), was considered to be the result of a de novo mutation. The possible relation between these congenital chromosome anomalies and a predisposition to neoplasia is discussed and could be explained by different mechanisms: (1) amplification of oncogenic determinants by gene duplication, and/or (2) alteration of the effects of wildtype alleles through deletion or changes in position.
在两名无关的急性淋巴细胞白血病（ALL）儿童中发现了先天性染色体异常。在第一例中，观察到11号染色体的臂间倒位，inv(11)(p15q13)，并发现这是家族性的，在两代人的其他五名家族成员中也存在。在第二例中，先天性21号环状染色体46,XX,r(21)的存在被认为是新发突变的结果。讨论了这些先天性染色体异常与肿瘤易感性之间的可能关系，并且可以通过不同机制来解释：(1) 通过基因复制扩增致癌决定因素，和/或(2) 通过缺失或位置改变改变野生型等位基因的效应。
