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

*Autor correspondiente de este trabajo

Resultado de la investigación: Contribución a una revistaArtículorevisión exhaustiva

16 Citas (Scopus)

Resumen

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.
Idioma originalInglés
Páginas (desde-hasta)397-399
Número de páginas3
PublicaciónAmerican Journal of Ophthalmology
Volumen125
N.º3
DOI
EstadoPublicada - mar 1998

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