Turleau C, de Grouchy J, Tournade M F, Gagnadoux M F, Junien C
Clin Genet. 1984 Oct;26(4):356-62. doi: 10.1111/j.1399-0004.1984.tb01071.x.
Three patients (two females, one male) are reported with bilateral aniridia, Wilms' tumor, more or less moderate mental retardation, decreased catalase activity, and del 11p13. These and 34 case reports from the literature are discussed with respect to: sex ratio, maternal age, type of chromosomal imbalance and frequency of associated rearrangements, prevalence of aniridia and other eye disorders, predisposition to tumor development, genitourinary anomalies, growth and mental retardation, and catalase involvement. Possible gene relationship within the complex locus and with neighbouring 11p genes is discussed.
报告了3例患者(2例女性,1例男性),他们患有双侧无虹膜、威尔姆斯瘤、或多或少的中度智力发育迟缓、过氧化氢酶活性降低以及11p13缺失。结合以下方面对这些病例以及文献中的34例病例报告进行了讨论:性别比例、母亲年龄、染色体失衡类型及相关重排频率、无虹膜和其他眼部疾病的患病率、肿瘤发生易感性、泌尿生殖系统异常、生长和智力发育迟缓以及过氧化氢酶受累情况。还讨论了该复杂基因座内以及与邻近11p基因之间可能的基因关系。