Ohnishi Y, Shigeto M, Ishibashi T, Hirata J
Department of Ophthalmology, Faculty of Medicine, Kyushu University, Fukuoka, Japan.
Ophthalmic Paediatr Genet. 1990 Dec;11(4):281-5. doi: 10.3109/13816819009015714.
The authors treated a 12-month-old Japanese boy with sporadic unilateral retinoblastoma and hereditary chromosomal inversion inv(11)(p11q23). This chromosomal inversion was also present in the father of the boy. Cytogenetic analyses of the mother and sister were normal. Retinoblastoma is associated with constitutional deletion of the long arm of chromosome 13. The breakpoint in the chromosome 11q23 region is involved in several malignant hematological diseases, and may be important in malignant transformation. Therefore, a large number of such patients with pericentric inversion of chromosome 11 has to be identified before significance of this chromosomal abnormality can be determined.
作者对一名患有散发性单侧视网膜母细胞瘤且伴有遗传性染色体倒位inv(11)(p11q23)的12个月大日本男孩进行了治疗。该男孩的父亲也存在这种染色体倒位。对其母亲和姐姐的细胞遗传学分析结果正常。视网膜母细胞瘤与13号染色体长臂的先天性缺失有关。11号染色体q23区域的断点与几种恶性血液疾病有关，可能在恶性转化中起重要作用。因此，在确定这种染色体异常的重要性之前，必须识别大量此类11号染色体臂间倒位的患者。
