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

Producción científica: Contribución a una revistaArtículorevisión exhaustiva

19 Citas (Scopus)


To report a patient with a phenotype suggestive of Gillespie syndrome and with a chromosomal abnormality.

Clinical evaluation showed bilateral superior coloboma, foveal hypoplasia, and inferior cerebellar hypoplasia. Karyotyping as well as investigation of the PAX6 gene were performed.

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.

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
EstadoPublicada - mar. 1998

Palabras clave

  • cerebellum hypoplasia
  • chromosome translocation 11
  • hromosome translocation X
  • malformation syndrome
  • fluorescence in situ hybridization
  • nuclear magnetic resonance imaging


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