Chromosomal imbalance in the Aniridia-Wilms' tumor association: 11p interstitial deletion.
Chromosomal imbalance in the Aniridia-Wilms' tumor association: 11p interstitial deletion.
复制标题
Aniridia-Wilms 肿瘤关联中的染色体失衡：11p 间质缺失。
作者：
V. Riccardi;E. Sujansky;Ann Smith;U. Francke
无虹膜、外阴不清和精神发育迟缓三联征(AGR三联征)是3例未见报道的11号染色体短臂间质缺失患者的典型临床特征。一名患者的Wilms‘s瘤确立了无虹膜-Wilms’肿瘤关联的一个原因。无虹膜、AGR三联体和Wilms瘤的遗传异质性被证实，Wilms瘤被认为是一种肿瘤性出生缺陷，可由各种胚胎侮辱引起，其中一些可能是染色体或可遗传的。
The triad of aniridia, ambiguous genitalia, and mental retardation (AGR triad) is the characteristic clinical feature of three unrelated patients with previously unreported chromosome 11 short arm interstitial deletions. A Wilms' tumor in one patient establishes one cause for the aniridia-Wilms' tumor association. The genetic heterogeneity of aniridia, the AGR triad, and Wilms' tumor are demonstrated, and Wilms' tumor is indicated to be a neoplastic birth defect which can result from a variety of embryologic insults, some of which may be chromosomal or heritable.