Characterization by FISH of a t(5;13) in a patient with bilateral retinoblastoma

E. Triviño; M. Guitart; J. Egozcue; M. D. Coll; Enric Querol Murillo

doi:https://doi.org/10.1016/S0165-4608(97)89572-6

Characterization by FISH of a t(5;13) in a patient with bilateral retinoblastoma

E. Triviño, M. Guitart, J. Egozcue, M. D. Coll, Enric Querol Murillo

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Abstract

We have used fluorescence in situ hybridization (FISH) with a biotinylated cosmid probe (13q14) to screen 25 unrelated cases with bilateral retinoblastoma and one case with unilateral retinoblastoma. In 25 cases no deletion or chromosome rearrangements were found. One constitutional mutation resulting from a de novo balanced chromosome translocation (5:13) in a patient with bilateral retinoblastoma was detected.

Original language	English
Pages (from-to)	23-25
Journal	Cancer Genetics and Cytogenetics
Volume	96
DOIs	https://doi.org/10.1016/S0165-4608(97)89572-6
Publication status	Published - 1 Jul 1997

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title = "Characterization by FISH of a t(5;13) in a patient with bilateral retinoblastoma",

abstract = "We have used fluorescence in situ hybridization (FISH) with a biotinylated cosmid probe (13q14) to screen 25 unrelated cases with bilateral retinoblastoma and one case with unilateral retinoblastoma. In 25 cases no deletion or chromosome rearrangements were found. One constitutional mutation resulting from a de novo balanced chromosome translocation (5:13) in a patient with bilateral retinoblastoma was detected.",

author = "E. Trivi{\~n}o and M. Guitart and J. Egozcue and Coll, {M. D.} and {Querol Murillo}, Enric",

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AU - Guitart, M.

AU - Egozcue, J.

AU - Coll, M. D.

AU - Querol Murillo, Enric

PY - 1997/7/1

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N2 - We have used fluorescence in situ hybridization (FISH) with a biotinylated cosmid probe (13q14) to screen 25 unrelated cases with bilateral retinoblastoma and one case with unilateral retinoblastoma. In 25 cases no deletion or chromosome rearrangements were found. One constitutional mutation resulting from a de novo balanced chromosome translocation (5:13) in a patient with bilateral retinoblastoma was detected.

AB - We have used fluorescence in situ hybridization (FISH) with a biotinylated cosmid probe (13q14) to screen 25 unrelated cases with bilateral retinoblastoma and one case with unilateral retinoblastoma. In 25 cases no deletion or chromosome rearrangements were found. One constitutional mutation resulting from a de novo balanced chromosome translocation (5:13) in a patient with bilateral retinoblastoma was detected.

U2 - https://doi.org/10.1016/S0165-4608(97)89572-6

DO - https://doi.org/10.1016/S0165-4608(97)89572-6

M3 - Article

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SP - 23

EP - 25

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