Weigel B J, Pierpont M E, Young T L, Mutchler S B, Neglia J P
Department of Pediatrics, University of Minnesota, Minneapolis 55455, USA.
Am J Med Genet. 1998 May 26;77(4):285-8. doi: 10.1002/(sici)1096-8628(19980526)77:4<285::aid-ajmg7>3.0.co;2-m.
Retinoblastoma is a rare pediatric malignancy (1/20,000) while Hirschsprung disease is a relatively common pediatric disorder (1/5,000). We describe a boy with bilateral retinoblastoma, Hirschsprung disease, multiple minor anomalies, and an interstitial deletion 13q (q13 --> q22). This child and a similar previously reported girl with retinoblastoma and Hirschsprung disease may represent a previously unrecognized contiguous gene syndrome.
视网膜母细胞瘤是一种罕见的儿科恶性肿瘤（发病率为1/20,000），而先天性巨结肠是一种相对常见的儿科疾病（发病率为1/5,000）。我们描述了一名患有双侧视网膜母细胞瘤、先天性巨结肠、多种轻微异常以及13号染色体间质缺失（q13→q22）的男孩。该患儿以及之前报道的一名患有视网膜母细胞瘤和先天性巨结肠的类似女孩可能代表了一种此前未被认识的相邻基因综合征。
