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

Producción científica: Contribución a una revista › Artículo › Investigación › revisión exhaustiva

4 Citas (Scopus)

Resumen

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	Inglés
Páginas (desde-hasta)	23-25
Publicación	Cancer Genetics and Cytogenetics
Volumen	96
DOI	https://doi.org/10.1016/S0165-4608(97)89572-6
Estado	Publicada - 1 jul 1997

ODS de las Naciones Unidas

Este resultado contribuye a los siguientes Objetivos de Desarrollo Sostenible

ODS 3: Salud y bienestar

Acceder al documento

10.1016/S0165-4608(97)89572-6

Otros archivos y enlaces

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

Citar esto

@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

Resumen

ODS de las Naciones Unidas

Acceder al documento

Otros archivos y enlaces

Huella

Citar esto