title: Retinoblastoma in a patient with an X;13 translocation and facial abnormalities consistent with 13q-syndrome.
abstract: 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.
authors.affiliation: Department of Ophthalmology, University of Tennessee Health Science Center, Memphis, Tennessee 38163, USA.
authors.forename: Stephen J
authors.initials: SJ
authors.lastname: Laquis
authors.forename: Carlos
authors.initials: C
authors.lastname: Rodriguez-Galindo
authors.forename: Matthew W
authors.initials: MW
authors.lastname: Wilson
authors.forename: James C
authors.initials: JC
authors.lastname: Fleming
authors.forename: Barrett G
authors.initials: BG
authors.lastname: Haik
mesh_terms: 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*