{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T19:26:23Z","timestamp":1771010783383,"version":"3.50.1"},"reference-count":26,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2006,7,19]],"date-time":"2006-07-19T00:00:00Z","timestamp":1153267200000},"content-version":"vor","delay-in-days":11157,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Med. Pediatr. Oncol."],"published-print":{"date-parts":[[1976,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Unilateral retinoblastoma (Rb) is usually a sporadic occurrence while bilateral (multi\u2010focal) cases are often familial. Sporadic bilateral Rb associated with a long\u2010arm deletion of a D\u2010group chromosome has been reported in 8 children. We have studied a 6\u2010year\u2010old female with bilateral sporadic retinoblastoma, treated during infancy by enucleation and radiotherapy. Chromosome banding studies on peripheral lymphocytes revealed an interstitial deletion from the long arm of a chromosome 13: del(13) (q12q14). Three additional patients reported in the literature had interstitial 13q\u2010 deletions, involving slightly different though overlapping regions. The only chromosomal region consistently missing in all of these 4 cases appears to be part of the lightly staining band 13q14. We, therefore, propose this site as the precise location of a gene (or genes) involved in retinal development.<\/jats:p><jats:p>Our patient lacked features of the classic 13q\u2010 or 13\u2010ring syndrome, which involves deletion of a more distal portion of the 13 long arm. When compared to reported patients with Rb and 13q\u2010, it became apparent that there may be a separate recognizable syndrome consisting of moderate growth and developmental delay, characteristic facies and external ears, and bilateral sporadic Rb, which is associated with an interstitial 13q\u2010 deletion.<\/jats:p>","DOI":"10.1002\/mpo.2950020404","type":"journal-article","created":{"date-parts":[[2007,2,20]],"date-time":"2007-02-20T14:11:50Z","timestamp":1171980710000},"page":"379-385","source":"Crossref","is-referenced-by-count":70,"title":["Sporadic bilateral retinoblastoma and 13q\u2010chromosomal deletion"],"prefix":"10.1002","volume":"2","author":[{"given":"Uta","family":"Francke","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Faith","family":"Kung","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,7,19]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9394(75)90143-9"},{"key":"e_1_2_1_3_2","volume-title":"Mendelian Inheritance in Man","author":"McKusick V. 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