Open AccessDuplicación parcial del cromosoma 4 asociada con coloboma ocular bilateral
Author(s) -
Adrián Collia,
Alejandra Antacle,
María José Veloso,
María Gabriela Obregón
Publication year - 2012
Publication title -
archivos argentinos de pediatría
Language(s) - Spanish
Resource type - Journals
SCImago Journal Rank - 0.236
H-Index - 19
eISSN - 1668-3501
pISSN - 0325-0075
DOI - 10.5546/aap.2012.e59
Subject(s) - coloboma , gene duplication , trisomy , iris (biosensor) , medicine , retinal , ophthalmology , biology , anatomy , genetics , computer science , computer security , biometrics , gene
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.