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  • Title: Early diagnosis of retinoblastoma based on dysmorphic features and karyotype analysis.
    Author: Seidman DJ, Shields JA, Augsburger JJ, Nelson LB, Lee ML, Sciorra LJ.
    Journal: Ophthalmology; 1987 Jun; 94(6):663-6. PubMed ID: 3627714.
    Abstract:
    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.
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