Retinoblastoma in a patient with an X;13 translocation and facial abnormalities consistent with 13q-syndrome.
OBJECTIVE
To report a patient with an X;13 translocation and facial features of 13q-syndrome who developed retinoblastoma.


METHODS
Observational case report.


METHODS
A 9-month-old girl known to have an X;13 chromosomal translocation with a break point at 13q12.1 and dysmorphic facial features characteristic of 13q-syndrome presented with leukocoria in her right eye.


RESULTS
By clinical examination, retinoblastoma was diagnosed in the right eye.


CONCLUSIONS
Chromosomal abnormalities on the long arm of chromosome 13 predispose to retinoblastoma formation and characteristic facial features.
Laquis
Stephen J
SJ
Department of Ophthalmology, University of Tennessee Health Science Center, Memphis, Tennessee 38163, USA.
Rodriguez-Galindo
Carlos
C
Wilson
Matthew W
MW
Fleming
James C
JC
Haik
Barrett G
BG
D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D019572:Retinal Neoplasms / Q000175:diagnosis / Q000235:genetics*; D012175:Retinoblastoma / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome; D014178:Translocation, Genetic; D014960:X Chromosome / Q000235:genetics*