Familial occurrence of the aniridia-Wilms tumor syndrome with deletion 11p13-14.1.
Familial occurrence of the aniridia-Wilms tumor syndrome with deletion 11p13-14.1.
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11p13-14.1 缺失的无虹膜-Wilms 肿瘤综合征的家族性发生。
DOI：
10.1016/s0022-3476(80)80630-5
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发表时间：
1980
期刊：
影响因子：
--
通讯作者：
N. Ramsay
中科院分区：
文献类型：
--
作者：
J. Yunis;N. Ramsay
本文报告了一个有两个同父异母的兄弟和一个阿姨患有无虹膜-Wilms肿瘤综合征的家庭。先证者表现出一条11号染色体的11p13带和11p14.1亚带的大部分缺失，先证者的母亲和哥哥表现出平衡的染色体重排，两者都是正常的。该家系表明，小染色体片段(11p13-14.1)的缺失是导致无虹膜-Wilms肿瘤综合征的原因，在某些情况下，该综合征可能是家族性的。
A report of a family with two half-brothers and a maternal aunt affected with the aniridia-Wilms tumor syndrome is presented. The proband showed a deletion of most of band 11p13 and of subband 11p14.1 of one chromosome 11, and the proband's mother and an older brother, both phenotypically normal, showed a balanced chromosomal rearrangement. This family demonstrates that deletion of a small chromosome segment (11p13-14.1) is responsible for the aniridia-Wilms tumor syndrome and, that in some cases, the syndrome can be familial.