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Review
. 1989 Jun;10(2):129-50.
doi: 10.3109/13816818909088353.

Constitutional karyotype in retinoblastoma. Case report and review of literature

F Munier  1 , G Pescia, M Jotterand-Bellomo, A Balmer, C Gailloud, F Thonney
Affiliations
Review

Constitutional karyotype in retinoblastoma. Case report and review of literature

F Munier et al. Ophthalmic Paediatr Genet. 1989 Jun.

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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