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

• 발행기관: 대한의학유전학회
• 저자명: Go Hun Seo Yoon-Myung Kim Gu-Hwan Kim Eul-Ju Seo Jin Ho Choi Beom Hee Lee Han-Wook Yoo
• 간행물 정보: 『대한의학유전학회지』제15권 제1호, 38~42쪽, 전체 5쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2018.06.30

영문 초록

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.

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키워드

WAGR syndrome Aniridia Wilms tumor