Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome with deletion of chromosome 11p14.3p12.

Author: Go Hun SEO ¹ ; Yoon Myung KIM ; Gu Hwan KIM ; Eul Ju SEO ; Jin Ho CHOI ; Beom Hee LEE ; Han Wook YOO
Author Information

1. Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea. hwyoo@amc.seoul.kr
Publication Type:Case Report
Keywords: WAGR syndrome; Aniridia; Wilms tumor
MeSH: Aniridia; Comparative Genomic Hybridization; Cytogenetics; Drug Therapy; Gene Deletion; Humans; Intellectual Disability; Ultrasonography; Urogenital Abnormalities; WAGR Syndrome*; Wilms Tumor*
From:Journal of Genetic Medicine 2018;15(1):38-42
CountryRepublic of Korea
Language:English
Abstract: WAGR (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) syndrome is a rare contiguous gene deletion syndrome caused by deleting genes including WT1 and PAX6 genes in 11p13 region, which is characterized by Wilms tumor, aniridia, genitourinary abnormalities, and intellectual disability. We report the clinical and cytogenetic characteristics of one Korean patient with WAGR syndrome. The patient shows bilateral sporadic aniridia and genital anomalies at 2 months of age. A heterozygous 14.5 Mb interstitial deletion of 11p14.3p12 region was detected by array comparative genomic hybridization. At 2 years and 10 months of age, Wilms tumor is found through regularly abdominal ultrasonography and treated by chemotherapy, radiation therapy and surgery.