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Updated: May 19, 2026

Visualization of the Superior Ocular Sulcus during Danio rerio Embryogenesis
Published on: March 27, 2019
[Partial duplication of chromosome 4 in a patient with bilateral ocular coloboma]
Adrián Collia1, Alejandra Antacle, María José Veloso
1Sanatorio Mater Dei, Ciudad Autónoma de Buenos Aires, Argentina. adrianus38@hotmail.com
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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