Early diagnosis of retinoblastoma based on dysmorphic features and karyotype analysis.
Karyotype analysis of two children with congenital dysmorphic features showed chromosome 13 deletion involving band 13q14. Ophthalmic examination prompted by the karyotype findings resulted in early diagnosis of unilateral multifocal retinoblastoma in each child. Therapy at this early stage of disease allowed preservation of vision in the affected eye in each child.
D000015:Abnormalities, Multiple / Q000150:complications*; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13; D005134:Eye Neoplasms / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D012175:Retinoblastoma / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D013997:Time Factors