2012
DOI: 10.5301/ejo.5000151
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13q Deletion syndrome and retinoblastoma in identical dichorionic diamniotic monozygotic twins

Abstract: Dysmorphic features in children must be always suspicious of 13q deletion syndrome and a short ophthalmoscopic follow-up is necessary to detect the presence of a retinoblastoma.

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Cited by 3 publications
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“…The retinoblastoma cell of origin has been debated for over a century; however, we now have a detailed understanding of the neuronal pathways that are deregulated in the primitive cells of the retina. The role of genomic instability of the retinoblastoma gene Rb1 localized on chromosome 13q and the most relevant epidemiological issues concerning retinoblastoma have recently been pointed out to explain the variegated clinical expression of the disease [1][2][3]. The most common signs of retinoblastoma are a visible whiteness in the pupil called leukocoria and a strabismus.…”
Section: Introductionmentioning
confidence: 99%
“…The retinoblastoma cell of origin has been debated for over a century; however, we now have a detailed understanding of the neuronal pathways that are deregulated in the primitive cells of the retina. The role of genomic instability of the retinoblastoma gene Rb1 localized on chromosome 13q and the most relevant epidemiological issues concerning retinoblastoma have recently been pointed out to explain the variegated clinical expression of the disease [1][2][3]. The most common signs of retinoblastoma are a visible whiteness in the pupil called leukocoria and a strabismus.…”
Section: Introductionmentioning
confidence: 99%
“…The role of genomic instability of the retinoblastoma gene Rb1 localized on chromosome 13q and the most relevant epidemiological issues concerning retinoblastoma have been pointed out to explain the various clinical expressions of the disease. [1][2][3] Treatment options mainly depend on the size, the location of the tumor and the genetic form. 4,5 In the worst advanced clinical case, when the chances to save vision are poor and the risk of dissemination is high, enucleation is realized.…”
mentioning
confidence: 99%