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

American Journal of Medical Genetics. Part a
Giovanni Battista FerreroMargherita Silengo

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.

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Citations

Jun 6, 2009·Italian Journal of Pediatrics·Elga F BelligniMargherita Cirillo Silengo
Apr 28, 2009·American Journal of Medical Genetics. Part a·Laura L KlittenRikke S Møller
Dec 18, 2008·Birth Defects Research. Part A, Clinical and Molecular Teratology·Barbara R PoberKristin M Noonan
Aug 5, 2010·American Journal of Medical Genetics. Part a·Mary C O'DriscollWilliam B Dobyns
Apr 17, 2007·American Journal of Human Genetics·A M HolderD A Scott
Jun 2, 2021·American Journal of Medical Genetics. Part a·Joshua ManorSeema R Lalani

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