缺失（11）（q14.1q21）。

Deletion (11)(q14.1q21).

作者信息

Stratton R F, Lazarus K H, Ritchie E J, Bell A M

机构信息

South Texas Genetics Center, Southwest Texas Methodist Hospital, San Antonio 78229.

出版信息

Am J Med Genet. 1994 Feb 1;49(3):294-8. doi: 10.1002/ajmg.1320490310.

DOI:10.1002/ajmg.1320490310

Abstract

We report on a 4-year-old girl with moderate developmental delay, horseshoe kidney, bilateral duplication of the ureters with right upper pole obstruction, hydronephrosis and nonfunction, and subsequent Wilms tumor of the right lower pole. She had an interstitial deletion of the long arm of chromosome 11 involving the region 11(q14.1q21).

摘要

我们报告了一名4岁女童，她有中度发育迟缓、马蹄肾、双侧输尿管重复畸形伴右上极梗阻、肾积水且无功能，随后右下腹极发生了肾母细胞瘤。她的11号染色体长臂存在涉及区域11(q14.1q21)的间质缺失。

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