Bilateral retinoblastoma with a 13qXp translocation.
An infant girl suffering from bilateral retinoblastoma and psychomotor retardation with a translocation of the long arm of chromosome 13 to the short arm of the X chromosome was described. The break point was determined to locate in band 13. As the band q14 is probably intact, the position effect might have attributed to the formation of retinoblastoma in this case.
D000328:Adult; D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D002901:Chromosomes, Human, 13-15; D005134:Eye Neoplasms / Q000150:complications* / Q000473:pathology / Q000601:surgery; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications; D008297:Male; D012175:Retinoblastoma / Q000150:complications* / Q000473:pathology / Q000601:surgery; D012729:Sex Chromosome Aberrations