Literature DB >> 3627714

Early diagnosis of retinoblastoma based on dysmorphic features and karyotype analysis.

D J Seidman, J A Shields, J J Augsburger, L B Nelson, M L Lee, L J Sciorra.   

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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Year:  1987        PMID: 3627714     DOI: 10.1016/s0161-6420(87)33397-4

Source DB:  PubMed          Journal:  Ophthalmology        ISSN: 0161-6420            Impact factor:   12.079


  1 in total

1.  Pars plana ciliary epithelial proliferation in 13q deletion syndrome.

Authors:  Y Usui; N A Rao
Journal:  Br J Ophthalmol       Date:  2003-11       Impact factor: 4.638

  1 in total

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