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

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.
Authors	Adrián Collia, Alejandra Antacle, María José Veloso, María Gabriela Obregón
Journal	Archivos argentinos de pediatria (Arch Argent Pediatr) Vol. 110 Issue 4 Pg. e59-62 (Aug 2012) ISSN: 1668-3501 [Electronic] Argentina
Vernacular Title	Duplicación parcial del cromosoma 4 asociada con coloboma ocular bilateral.
PMID	22859333 (Publication Type: Case Reports, English Abstract, Journal Article)
Topics	Chromosome Duplication (genetics) Chromosomes, Human, Pair 4 (genetics) Coloboma (genetics) Esotropia (diagnosis) Humans Infant Male

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