Corpus callosum agenesis in trisomy 8p11.23 and monosomy 4q34 because of maternal translocation

Abstract

We report on a 3-year-old boy with partial trisomy 8 p11.23 -> pter and partial monosomy 4q34 -> qter, associated with developmental delay, complete agenesis of the corpus callosum, and mild dysmorphic features. Although agenesis of the corpus callosum is not a rare finding among chromosomal abnormalities, partial trisomy 8p together with partial monosomy 4q, resulting from a maternal translocation, was not previously reported, to the best of our knowledge. (C) 2008 by Elsevier Inc. All rights reserved.