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: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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Resum

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.

Idioma original	Anglès
Pàgines (de-a)	23-25
Revista	Cancer Genetics and Cytogenetics
Volum	96
DOIs	https://doi.org/10.1016/S0165-4608(97)89572-6
Estat de la publicació	Publicada - 1 de jul. 1997

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10.1016/S0165-4608(97)89572-6

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@article{8608a8d945eb4671bb5f30ff8f3b3e2e,

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",

year = "1997",

month = jul,

day = "1",

doi = "10.1016/S0165-4608(97)89572-6",

language = "English",

volume = "96",

pages = "23--25",

}

TY - JOUR

T1 - Characterization by FISH of a t(5;13) in a patient with bilateral retinoblastoma

AU - Triviño, E.

AU - Guitart, M.

AU - Egozcue, J.

AU - Coll, M. D.

AU - Querol Murillo, Enric

PY - 1997/7/1

Y1 - 1997/7/1

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.

UR - https://www.scopus.com/pages/publications/0031009611

U2 - 10.1016/S0165-4608(97)89572-6

DO - 10.1016/S0165-4608(97)89572-6

M3 - Article

SN - 0165-4608

VL - 96

SP - 23

EP - 25

JO - Cancer Genetics and Cytogenetics

JF - Cancer Genetics and Cytogenetics

ER -

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

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SDG de les Nacions Unides

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