Ophthalmic Features in a Dysmorphic Boy with Chromosome 4q Deletion and Duplication

被引：3

作者：

Parentin, Fulvio ^{[1
]}

Fabretto, Antonella ^{[2
]}

Benussi, Daniela Gambel ^{[2
]}

Petix, Vincenzo ^{[2
]}

Marchetti, Federico ^{[3
]}

Dalpra, Leda ^{[4
]}

Redaelli, Serena ^{[4
]}

Pensiero, Stefano ^{[1
]}

Pecile, Vanna ^{[2
]}

机构：

[1] Inst Maternal & Child Hlth IRCCS Burlo Garofolo, Dept Surg, Ophthalmol Unit, Trieste, Italy

[2] Inst Maternal & Child Hlth IRCCS Burlo Garofolo, Dept Genet, Trieste, Italy

[3] Inst Maternal & Child Hlth IRCCS Burlo Garofolo, Dept Pediat, Trieste, Italy

[4] Univ Milano Bicocca, Dept Neurosci & Biomed Technol, Monza, Italy

来源：

OPHTHALMIC GENETICS | 2009年 / 30卷 / 02期

关键词：

4q; deletion; duplication; ophthalmoplegia; optic nerve; hypoplasia;

D O I：

10.1080/13816810802592559

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：103 / 105

页数：3

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