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Case Reports
. 2012 Aug;110(4):e59-62.
doi: 10.5546/aap.2012.e59.

[Partial duplication of chromosome 4 in a patient with bilateral ocular coloboma]

[Article in Spanish]
Adrián Collia  1 , Alejandra Antacle, María José Veloso, María Gabriela Obregón
Affiliations
Free article
Case Reports

[Partial duplication of chromosome 4 in a patient with bilateral ocular coloboma]

[Article in Spanish]
Adrián Collia et al. Arch Argent Pediatr. 2012 Aug.
Free article

Abstract

Partial trisomy 4q is a rare chromosomal disease. It involves duplication of a portion (particularly the distal one) of the long arm of chromosome 4. In most cases results from a balanced translocation on one single progenitor. The "de novo" appearance is less common. Depending on the size and location of duplicated genetic material, patients may have different clinical manifestations. Associated eye pathology has been scarcely informed. We report on a novel case of a male infant with a proximal "de novo" 4q12-q22 duplication and bilateral iris, retinal and optic nerve coloboma.

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