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.

• Authors: H Dollfus, O Joanny-Flinois, M Doco-Fenzy, L Veyre, L Joanny-Flinois, M Khoury, P Jonveaux, M Abitbol, J L Dufier
• Journal: American journal of ophthalmology (Am J Ophthalmol) Vol. 125 Issue 3 Pg. 397-9 (Mar 1998) ISSN: 0002-9394 [Print] United States
• PMID: 9512164 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (genetics)
• Cerebellum (abnormalities, pathology)
• Chromosome Aberrations (genetics)
• Chromosome Disorders
• Chromosomes, Human, Pair 11
• Coloboma (genetics, pathology)
• Female
• Fovea Centralis (abnormalities, pathology)
• Humans
• In Situ Hybridization, Fluorescence
• Infant
• Intellectual Disability (genetics)
• Iris (abnormalities, pathology)
• Karyotyping
• Magnetic Resonance Imaging
• Phenotype
• Syndrome
• Translocation, Genetic
• X Chromosome