Retinoblastoma in a patient with a 13qXp translocation.
An infant girl with failure to thrive and bilateral retinoblastoma had a translocation of the long arm of chromosome 13 to the short arm of the X chromosome, and possible loss of a portion of the q 14 band. The lack of other major organ malformations in this patient emphasized the importance of considering chromosomal aberrations as a possible etiology of retinoblastoma in patients with nonspecific psychomotor retardation.
D000328:Adult; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000150:complications*; D025063:Chromosome Disorders; D002901:Chromosomes, Human, 13-15; D003452:Cryosurgery; D005134:Eye Neoplasms / Q000150:complications* / Q000209:etiology / Q000473:pathology; D005260:Female; D006130:Growth Disorders / Q000150:complications; D006801:Humans; D007223:Infant; D007230:Infant, Low Birth Weight; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D013508:Ophthalmologic Surgical Procedures; D011247:Pregnancy; D012175:Retinoblastoma / Q000150:complications* / Q000473:pathology; D014960:X Chromosome