Moreno García M, Sánchez del Pozo J, Fernández Martínez F J, Moreno-Izquierdo A, Barreiro Miranda E
Hospital 12 de Octubre, Servicio de Genética, Madrid.
An Esp Pediatr. 1998 Oct;49(4):381-7.
WAGR syndrome is a rare syndrome which involves microdeletions of the short arm of chromosome 11 at band 11p13. The clinical features are Wilms' tumor, amiridia, genitourinary abnormalities and mental retardation. There are very few reported cases. We report a new case of WAGR syndrome and review the literature.
Chromosome preparations were obtained from lymphocyte cultures of peripheral blood. For chromosome analysis GTG banding and fluorescent "in situ" hybridization (FISH) were used.
Chromosomal analysis revealed deletion of p12-p13 bands. Our patient had bilateral aniridia, Wilms' tumor and cryptorquidia.
The karyotype was 46, XY, del (11)(p12-p13). The p13 band deletion was the cause of the WAGR syndrome.
WAGR综合征是一种罕见综合征，涉及11号染色体短臂11p13带的微缺失。临床特征包括肾母细胞瘤、无虹膜、泌尿生殖系统异常和智力发育迟缓。报道的病例极少。我们报告一例新的WAGR综合征病例并复习文献。
从外周血淋巴细胞培养物中获取染色体标本。染色体分析采用GTG显带和荧光原位杂交（FISH）技术。
染色体分析显示p12 - p13带缺失。我们的患者有双侧无虹膜、肾母细胞瘤和隐睾症。
核型为46, XY, del(11)(p12 - p13)。p13带缺失是WAGR综合征的病因。
