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

doi:10.1080/13816810802592559

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

IRCCS pediatrico Burlo Garofolo

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	103-105
Number of pages	3
Journal	Ophthalmic Genetics
Volume	30
Issue number	2
DOIs	https://doi.org/10.1080/13816810802592559
Publication status	Published - 2009

Keywords

4q
Deletion
Duplication
Hypoplasia
Ophthalmoplegia
Optic nerve

ASJC Scopus subject areas

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

Access to Document

10.1080/13816810802592559

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Ophthalmic features in a dysmorphic boy with chromosome 4q deletion and duplication. / Parentin, Fulvio ; Fabretto, Antonella; Benussi, Daniela Gambel; Petix, Vincenzo; Marchetti, Federico; Dalpr, Leda; Redaelli, Serena; Pensiero, Stefano ; Pecile, Vanna.

In: Ophthalmic Genetics, Vol. 30, No. 2, 2009, p. 103-105.

Research output: Contribution to journal › Article › peer-review

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