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  • Title: Constitutional karyotype in retinoblastoma. Case report and review of literature.
    Author: Munier F, Pescia G, Jotterand-Bellomo M, Balmer A, Gailloud C, Thonney F.
    Journal: Ophthalmic Paediatr Genet; 1989 Jun; 10(2):129-50. PubMed ID: 2674826.
    Abstract:
    High resolution karyotype was performed in 13 retinoblastoma patients. A mosaic pattern for del(13)(q14.1;q14.3) was found in a girl with sporadic bilateral retinoblastoma and midface dysmorphism. In addition, 162 cases of 13q aberrations were reviewed, including 140 retinoblastoma patients and 22 non-penetrance 13q14 deletions. Some epidemiological and genetic involvements are discussed.
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