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Article

Phenotype resembling Donnai-Barrow syndrome in a patient with 9qter;16qter unbalanced translocation.

American journal of medical genetics. Part A - 15 Apr 2006

Ferrero Giovanni Battista, Belligni Elga, Sorasio Lorena, Delmonaco Angelo Giovanni, Oggero Roberto, Faravelli Francesca, Pierluigi Mauro, Silengo Margherita

Abstract excerpt

We describe a 3-year-old boy with complete agenesis of corpus callosum, developmental delay/mental retardation, anterior diaphragmatic hernia, Morgagni type, severe hypermetropia, and facial dysmorphism suggesting the diagnosis of Donnai-Barrow syndrome. Subtelomeric FISH analysis revealed a paternally-derived t(9;16) (q34.3;q24.3) translocation with partial 9q monosomy and partial 16q trisomy. As some facial...

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PMID: 16532464
DOI: 10.1002/ajmg.a.31188

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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