Ophthalmic features in a dysmorphic boy with chromosome 4q deletion and duplication

Fulvio Parentin, Antonella Fabretto, Daniela Gambel Benussi, Vincenzo Petix, Federico Marchetti, Leda Dalpr, Serena Redaelli, Stefano Pensiero, Vanna Pecile

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)103-105
Number of pages3
JournalOphthalmic Genetics
Issue number2
Publication statusPublished - 2009


  • 4q
  • Deletion
  • Duplication
  • Hypoplasia
  • Ophthalmoplegia
  • Optic nerve

ASJC Scopus subject areas

  • Ophthalmology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)


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