title: [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.affiliation: Sanatorio Mater Dei, Ciudad Autónoma de Buenos Aires, Argentina. adrianus38@hotmail.com
authors.forename: Adrián
authors.initials: A
authors.lastname: Collia
authors.forename: Alejandra
authors.initials: A
authors.lastname: Antacle
authors.forename: María José
authors.initials: MJ
authors.lastname: Veloso
authors.forename: María Gabriela
authors.initials: MG
authors.lastname: Obregón
mesh_terms: D058674:Chromosome Duplication / Q000235:genetics*; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D003103:Coloboma / Q000235:genetics*; D004948:Esotropia / Q000175:diagnosis; D006801:Humans; D007223:Infant; D008297:Male