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.

Parentin, F., Fabretto, A., Benussi, D., Petix, V., Marchetti, F., Dalpra', L., et al. (2009). Ophthalmic features in a dysmorphic boy with chromosome 4q deletion and duplication. OPHTHALMIC GENETICS, 30(2), 103-105 [10.1080/13816810802592559].

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

DALPRA', LEDA;
2009

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.
Articolo in rivista - Articolo scientifico
4q; deletion; duplication; ophthalmoplegia; optic nerve; hypoplasia
English
Parentin, F., Fabretto, A., Benussi, D., Petix, V., Marchetti, F., Dalpra', L., et al. (2009). Ophthalmic features in a dysmorphic boy with chromosome 4q deletion and duplication. OPHTHALMIC GENETICS, 30(2), 103-105 [10.1080/13816810802592559].
Parentin, F; Fabretto, A; Benussi, D; Petix, V; Marchetti, F; Dalpra', L; Redaelli, S; Pensiero, S; Pecile, V
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/10281/28435
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