학술논문
Ophthalmic Features in a Dysmorphic Boy with Chromosome 4q Deletion and Duplication.
Document Type
Article
Author
Source
Subject
*OPTIC nerve
*VISUAL pathways
*OCCUPATIONAL diseases
*GENOTYPE-environment interaction
*GENETICS
*DNA
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Language
ISSN
1381-6810
Abstract
The 4q deletion syndrome shows varying phenotype, ranging from severe and complex malformations, unconformable with life, to more specific findings, as genitourinary, gastrointestinal and cardiac malformations, cleft palate,microcephaly, hypertelorism and abnormal ears and limbs. Strabismus, nystagmus, ophthalmoplegia, and optic nerve anomalies have been rarely described in literature. We report an original case of simultaneous deletion and duplication of chromosome 4q, confirmed by SNPs-array analysis of DNA, and characterized by a previously unreported association between optic nerve hypoplasia and progressive external ophthalmoplegia. [ABSTRACT FROM AUTHOR]