Bec P, Arne J L, Bourrouillou G, Colombies P
Mod Probl Ophthalmol. 1977;18:160-4.
Two cases of retinoblastoma in two children showing a chromosomal rearrangement in the karyotype were reported. In the first case, a pericentric inversion of chromosome 9 was observed both in the child and his father. In the second case, a reciprocal translocation t (3;12)(q29;q15) present also in the paternal karyotype was identified. A strict connection cannot be established between the tumour itself and the family chromosomal aberrations, but these observations raise the problem of a possible "interchromosomal effect".
报道了两名患有视网膜母细胞瘤的儿童，其核型显示出染色体重排。在第一个病例中，在患儿及其父亲体内均观察到9号染色体的臂间倒位。在第二个病例中，鉴定出一种相互易位t(3;12)(q29;q15)，其也存在于父本核型中。虽然无法在肿瘤本身与家族染色体畸变之间建立严格的联系，但这些观察结果提出了可能存在“染色体间效应”的问题。
