Gillespie syndrome phenotype with a t(X;11)(p22.32;p12) de novo translocation

Hélène Dollfus; Olivier Joanny-Flinois; Martine Doco-Fenzy; Lysiane Veyre; Lina Joanny-Flinois; Maroun Khoury; Philippe Jonveaux; Marc Abitbol; Jean Louis Dufier

doi:10.1016/S0002-9394(99)80157-3

Gillespie syndrome phenotype with a t(X;11)(p22.32;p12) de novo translocation

Hélène Dollfus^*, Olivier Joanny-Flinois, Martine Doco-Fenzy, Lysiane Veyre, Lina Joanny-Flinois, Maroun Khoury, Philippe Jonveaux, Marc Abitbol, Jean Louis Dufier

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

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Abstract

PURPOSE: To report a patient with a phenotype suggestive of Gillespie syndrome and with a chromosomal abnormality. METHODS: Clinical evaluation showed bilateral superior coloboma, foveal hypoplasia, and inferior cerebellar hypoplasia. Karyotyping as well as investigation of the PAX6 gene were performed. RESULTS: The karyotype of the patient disclosed a de novo translocation t(X;11)(p22.32;p12). Fluorescent in situ hybridization and the search for mutations excluded direct implication of the PAX6 gene. CONCLUSION: This is, to our knowledge, the first report of a chromosomal abnormality detected in a patient with a Gillespie syndrome phenotype.

Original language	English
Pages (from-to)	397-399
Number of pages	3
Journal	American Journal of Ophthalmology
Volume	125
Issue number	3
DOIs	https://doi.org/10.1016/S0002-9394(99)80157-3
State	Published - Mar 1998

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title = "Gillespie syndrome phenotype with a t(X;11)(p22.32;p12) de novo translocation",

abstract = "PURPOSE: To report a patient with a phenotype suggestive of Gillespie syndrome and with a chromosomal abnormality. METHODS: Clinical evaluation showed bilateral superior coloboma, foveal hypoplasia, and inferior cerebellar hypoplasia. Karyotyping as well as investigation of the PAX6 gene were performed. RESULTS: The karyotype of the patient disclosed a de novo translocation t(X;11)(p22.32;p12). Fluorescent in situ hybridization and the search for mutations excluded direct implication of the PAX6 gene. CONCLUSION: This is, to our knowledge, the first report of a chromosomal abnormality detected in a patient with a Gillespie syndrome phenotype.",

keywords = "cerebellum hypoplasia, chromosome translocation 11, hromosome translocation X, malformation syndrome, fluorescence in situ hybridization, nuclear magnetic resonance imaging",

author = "H{\'e}l{\`e}ne Dollfus and Olivier Joanny-Flinois and Martine Doco-Fenzy and Lysiane Veyre and Lina Joanny-Flinois and Maroun Khoury and Philippe Jonveaux and Marc Abitbol and Dufier, {Jean Louis}",

year = "1998",

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doi = "10.1016/S0002-9394(99)80157-3",

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TY - JOUR

T1 - Gillespie syndrome phenotype with a t(X;11)(p22.32;p12) de novo translocation

AU - Dollfus, Hélène

AU - Joanny-Flinois, Olivier

AU - Doco-Fenzy, Martine

AU - Veyre, Lysiane

AU - Joanny-Flinois, Lina

AU - Khoury, Maroun

AU - Jonveaux, Philippe

AU - Abitbol, Marc

AU - Dufier, Jean Louis

PY - 1998/3

Y1 - 1998/3

N2 - PURPOSE: To report a patient with a phenotype suggestive of Gillespie syndrome and with a chromosomal abnormality. METHODS: Clinical evaluation showed bilateral superior coloboma, foveal hypoplasia, and inferior cerebellar hypoplasia. Karyotyping as well as investigation of the PAX6 gene were performed. RESULTS: The karyotype of the patient disclosed a de novo translocation t(X;11)(p22.32;p12). Fluorescent in situ hybridization and the search for mutations excluded direct implication of the PAX6 gene. CONCLUSION: This is, to our knowledge, the first report of a chromosomal abnormality detected in a patient with a Gillespie syndrome phenotype.

AB - PURPOSE: To report a patient with a phenotype suggestive of Gillespie syndrome and with a chromosomal abnormality. METHODS: Clinical evaluation showed bilateral superior coloboma, foveal hypoplasia, and inferior cerebellar hypoplasia. Karyotyping as well as investigation of the PAX6 gene were performed. RESULTS: The karyotype of the patient disclosed a de novo translocation t(X;11)(p22.32;p12). Fluorescent in situ hybridization and the search for mutations excluded direct implication of the PAX6 gene. CONCLUSION: This is, to our knowledge, the first report of a chromosomal abnormality detected in a patient with a Gillespie syndrome phenotype.

KW - cerebellum hypoplasia

KW - chromosome translocation 11

KW - hromosome translocation X

KW - malformation syndrome

KW - fluorescence in situ hybridization

KW - nuclear magnetic resonance imaging

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AN - SCOPUS:0032032936

SN - 0002-9394

VL - 125

SP - 397

EP - 399

JO - American Journal of Ophthalmology

JF - American Journal of Ophthalmology

IS - 3

ER -

Gillespie syndrome phenotype with a t(X;11)(p22.32;p12) de novo translocation

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