Bernard J L, Baeteman M A, Mattei J F, Raybaud C, Giraud F
Eur J Pediatr. 1984 Jan;141(3):175-7. doi: 10.1007/BF00443220.
An apparently balanced de novo constitutional translocation (7;13) (q36;q13) was detected on peripheral lymphocytes and fibroblasts of a 14-month-old boy. The patient presented a facial dysmorphism with hydrocephaly and mental retardation associated with a Wilms' tumor. A pure coincidence of random association cannot be ruled out but one can equally assert the plausibility of a minimal unnoticed deletion or a position effect.
在一名14个月大男孩的外周淋巴细胞和成纤维细胞中检测到一种明显平衡的新发染色体易位(7;13)(q36;q13)。该患者表现出面部畸形,伴有脑积水和智力发育迟缓,并患有肾母细胞瘤。不能排除随机关联的纯粹巧合,但同样可以断言存在微小未被注意到的缺失或位置效应的可能性。