{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,23]],"date-time":"2025-06-23T14:05:01Z","timestamp":1750687501312},"reference-count":29,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2013,3,13]],"date-time":"2013-03-13T00:00:00Z","timestamp":1363132800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label \/><jats:p>Newborn sporadic aniridia patients with an 11p13 deletion including the <jats:italic>WT1<\/jats:italic> gene have an increased risk to develop Wilms tumor. At present a risk for Wilms tumor cannot be estimated in patients with deletions not extending into, but ending close to <jats:italic>WT1<\/jats:italic>. Therefore, it is important to determine the distance of deletion endpoints from the <jats:italic>WT1<\/jats:italic> gene and survey these patients for a longer follow\u2010up time to obtain a more defined risk estimation. Using molecular methods, such as Multiplex Ligation\u2010dependent Probe Amplification (MLPA), deletion endpoints can be mapped more accurately than with FISH. We describe here the analysis of six aniridia patients, in two of these the deletions extend close to the 3\u2032 end of <jats:italic>WT1<\/jats:italic>. At the ages of 3.8 and 4 years they have not developed a Wilms tumor, suggesting a low tumor risk in such patients. In addition we have studied 24 non\u2010AN cases with a higher likelihood for <jats:italic>WT1<\/jats:italic> alterations with MLPA and found no deletions. In conclusion newborns with aniridia should be studied with molecular methods that can determine deletion endpoints in 11p13 exactly. For a better Wilms tumor risk estimation cases with deletion endpoints close to <jats:italic>WT1<\/jats:italic> should be followed for at least 4\u20135 years. Furthermore germ line intragenic deletions affecting <jats:italic>WT1<\/jats:italic> in patients with a higher likelihood for a <jats:italic>WT1<\/jats:italic> association, for example, bilateral tumors, genitourinary aberrations, or nephrotic syndrome, were not found in this study, suggesting that deletions are rare events. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.35818","type":"journal-article","created":{"date-parts":[[2013,3,14]],"date-time":"2013-03-14T09:32:46Z","timestamp":1363253566000},"page":"958-964","source":"Crossref","is-referenced-by-count":3,"title":["Evaluation of Chromosome 11p Imbalances in Aniridia and Wilms Tumor Patients"],"prefix":"10.1002","volume":"161","author":[{"given":"Maike","family":"Busch","sequence":"first","affiliation":[{"name":"Institute of Human Genetics and Anthropology, Medical Faculty Heinrich\u2010Heine\u2010University of Duesseldorf Duesseldorf 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