无虹膜-肾母细胞瘤综合征——1例伴有11p 13-14.1缺失及室间隔缺损的病例
Aniridia--Wilms' tumour association--a case with 11p 13-14.1 deletion and ventricular septal defect.
作者信息
Rao S R, Athale U H, Kadam P R, Gladstone B, Nair C N, Pai S K, Kurkure P A, Advani S H
机构信息
Department of Medical Oncology, Tata Memorial Hospital, Parel, Bombay, India.
出版信息
Indian J Cancer. 1992 Sep;29(3):117-21.
A two year old female child with bilateral wilms tumor (WT) along with multiple congenital anomalies like bilateral aniridia with congenital cataracts and nystagmus, microcephaly, mental retardation and ventricular septal defect has been described. The karyotype analysis revealed 46 xx, del 11p 13-14.1. Association of ventricular septal defect with the classical features of 'Aniridia-Wilms' tumor association' is an unusual feature in this case.
本文描述了一名两岁女童，患有双侧肾母细胞瘤（WT），同时伴有多种先天性异常，如双侧无虹膜伴先天性白内障和眼球震颤、小头畸形、智力发育迟缓以及室间隔缺损。核型分析显示为46 xx，11p 13 - 14.1缺失。室间隔缺损与“无虹膜 - 肾母细胞瘤综合征”的典型特征相关联，在该病例中是一个不寻常的特征。
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