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.
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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)
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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
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