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Retinoblastoma, gross internal malformations, and deletion 13q14→q31

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Summary

A male patient with an interstitial deletion 13q14→q31 is described. Our necropsy findings included a left retinoblastoma and several gross internal malformations. In this paper we reaffirm that band 13q14 is involved in cases of retinoblastoma and we propose, after studying accompanying cases of total or partial long arm trisomies 13, that the loss of specific 13q bands, from 13q14 to 13q31 is responsible for the congenital defects we are describing.

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Authors and Affiliations

  1. Sección de Genética Humana, Departamento d Morfologiam Facultad de Medicina, Universidad Nacional de Colombia, Bogotá, D.E., Colombia

    Emilio Yunis, Ruth Zuñiga & Efrain Ramírez

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  1. Emilio Yunis
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  2. Ruth Zuñiga
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  3. Efrain Ramírez
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Yunis, E., Zuñiga, R. & Ramírez, E. Retinoblastoma, gross internal malformations, and deletion 13q14→q31. Hum Genet 56, 283–286 (1981). https://doi.org/10.1007/BF00274680

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  • DOI: https://doi.org/10.1007/BF00274680

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