Email this article А clinical case of WAGRO syndrome
- Authors: Sukhanova N.V.1, Katargina L.A.2, Zinchenko R.A.3, Marakhonov A.V.3, Vasilieva T.A.3,4
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Affiliations:
- Federal State Budgetary Institution of Health’s Central Clinical Hospital of the Russian Academy of Sciences
- Helmholtz National Medical Сenter of Eye Diseases
- Research Centre for Medical Genetics
- N.A. Semashko National Research Institute of Public Health
- Issue: Vol 15, No 2 (2020)
- Pages: 19-24
- Section: Case reports
- URL: https://bakhtiniada.ru/1993-1859/article/view/59446
- DOI: https://doi.org/10.17816/rpo2020-15-2-19-24
- ID: 59446
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Abstract
WAGRO syndrome is a rare genetic syndrome that includes Wilms’ tumor, aniridia, genitourinary system abnormalities, mental retardation, and obesity. The syndrome is associated with deletions of the short arm of chromosome 11 (11p), where the PAX6 and WT1 genes are located. We present the clinical case of a 7-year-old boy with aniridia, polar cataract, and concomitant neuromotor, psychomotor, and speech delays. Evaluation of the child’s karyotype followed by confirmation using multiplex ligation-dependent probe amplification showed the presence of a deletion including in the 11p13-p14 region.
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##article.viewOnOriginalSite##About the authors
Natella V. Sukhanova
Federal State Budgetary Institution of Health’s Central Clinical Hospital of the Russian Academy of Sciences
Author for correspondence.
Email: natelasukhanova@gmail.com
ORCID iD: 0000-0003-4371-775X
MD
Russian Federation, 117593, Moscow, Russian FederationLudmila A. Katargina
Helmholtz National Medical Сenter of Eye Diseases
Email: info@igb.ru
ORCID iD: 0000-0002-4857-0374
MD, PhD, Professor
Russian Federation, 105062, Moscow, Russian FederationRena A. Zinchenko
Research Centre for Medical Genetics
Email: renazinchenko@mail.ru
ORCID iD: 0000-0003-3586-3458
MD, PhD, Professor
Russian Federation, 115478, Moscow, Russian FederationAndrey V. Marakhonov
Research Centre for Medical Genetics
Email: marakhonov@gmail.com
ORCID iD: 0000-0002-0972-5118
PhD
Russian Federation, 115478, Moscow, Russian FederationTatjana A. Vasilieva
Research Centre for Medical Genetics; N.A. Semashko National Research Institute of Public Health
Email: vasilyeva_debrie@mail.ru
ORCID iD: 0000-0002-1503-134X
научный сотрудник
Russian Federation, 115478, Moscow, Russian Federation; 105064, Moscow, Russian FederationReferences
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