Search

Your search keyword '"Delmonaco, P"' showing total 3 results
Start Over Author "Delmonaco, P" Journal american journal of medical genetics. part a
3 results on '"Delmonaco, P"'

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

Author

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

Abstract

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 features resemble the 9q emerging phenotype, we suggest the hypothesis that some patients with Donnai–Barrow syndrome might be abscribed to 9q terminal deletion. © 2006 Wiley‐Liss, Inc.

Published
2006
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results