title: Gillespie syndrome phenotype with a t(X;11)(p22.32;p12) de novo translocation.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  This is, to our knowledge, the first report of a chromosomal abnormality detected in a patient with a Gillespie syndrome phenotype.
authors.affiliation: Service d'Ophtalmologie, Hôpital Necker-Enfants Malades, France.
authors.forename: H
authors.initials: H
authors.lastname: Dollfus
authors.forename: O
authors.initials: O
authors.lastname: Joanny-Flinois
authors.forename: M
authors.initials: M
authors.lastname: Doco-Fenzy
authors.forename: L
authors.initials: L
authors.lastname: Veyre
authors.forename: L
authors.initials: L
authors.lastname: Joanny-Flinois
authors.forename: M
authors.initials: M
authors.lastname: Khoury
authors.forename: P
authors.initials: P
authors.lastname: Jonveaux
authors.forename: M
authors.initials: M
authors.lastname: Abitbol
authors.forename: J L
authors.initials: JL
authors.lastname: Dufier
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002531:Cerebellum / Q000002:abnormalities* / Q000473:pathology; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002880:Chromosomes, Human, Pair 11; D003103:Coloboma / Q000235:genetics* / Q000473:pathology; D005260:Female; D005584:Fovea Centralis / Q000002:abnormalities* / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D007498:Iris / Q000002:abnormalities* / Q000473:pathology; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D010641:Phenotype; D013577:Syndrome; D014178:Translocation, Genetic; D014960:X Chromosome