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

Research output: Contribution to journalArticlepeer-review

16 Scopus citations

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 languageEnglish
Pages (from-to)397-399
Number of pages3
JournalAmerican Journal of Ophthalmology
Volume125
Issue number3
DOIs
StatePublished - Mar 1998

Fingerprint

Dive into the research topics of 'Gillespie syndrome phenotype with a t(X;11)(p22.32;p12) de novo translocation'. Together they form a unique fingerprint.

Cite this