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Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome with deletion of chromosome 11p14.3p12
J Genet Med 2018;15:38-42
Published online June 30, 2018;  https://doi.org/10.5734/JGM.2018.15.1.38
© 2018 Korean Society of Medical Genetics and Genomics.

Go Hun Seo1, Yoon-Myung Kim1,‡, Gu-Hwan Kim2, Eul-Ju Seo2, Jin Ho Choi1, Beom Hee Lee1,2, and Han-Wook Yoo1,2,*

1Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea
2Medical Genetics Center, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea
Han-Wook Yoo, M.D., Ph.D. http://orcid.org/0000-0001-8615-186X
Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, 88 Olympic-ro 43-gil, Songpa-gu, Seoul 05505, Korea.
Tel: +82-2-3010-3374, Fax: +82-2-473-3725, E-mail: hwyoo@amc.seoul.kr
Received February 27, 2018; Revised April 9, 2018; Accepted April 11, 2018.
cc This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
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.
Keywords : WAGR syndrome, Aniridia, Wilms tumor.


June 2018, 15 (1)
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