Resumen
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.
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.
| Idioma original | Inglés |
|---|---|
| Páginas (desde-hasta) | 397-399 |
| Número de páginas | 3 |
| Publicación | American Journal of Ophthalmology |
| Volumen | 125 |
| N.º | 3 |
| DOI | |
| Estado | Publicada - mar. 1998 |
Palabras clave
- cerebellum hypoplasia
- chromosome translocation 11
- hromosome translocation X
- malformation syndrome
- fluorescence in situ hybridization
- nuclear magnetic resonance imaging