Gillespie syndrome phenotype with a t(X;11)(p22.32;p12) de novo translocation.
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.
Dollfus
H
H
Service d'Ophtalmologie, Hôpital Necker-Enfants Malades, France.
Joanny-Flinois
O
O
Doco-Fenzy
M
M
Veyre
L
L
Joanny-Flinois
L
L
Khoury
M
M
Jonveaux
P
P
Abitbol
M
M
Dufier
J L
JL
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