Duplicación parcial del cromosoma 4 asociada con coloboma ocular bilateral | Zendy

Adrian Colla | Zendy

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Duplicación parcial del cromosoma 4 asociada con coloboma ocular bilateral

Author(s) -

Adrian Colla

Publication year - 2012

Publication title -

archivos argentinos de pediatria

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.

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