Corpus callosum agenesis in trisomy 8p11.23 and monosomy 4q34 because of maternal translocation
PEDIATRIC NEUROLOGY, vol.39, no.1, pp.55-57, 2008 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 39 Issue: 1
- Publication Date: 2008
- Doi Number: 10.1016/j.pediatrneurol.2008.03.012
- Journal Name: PEDIATRIC NEUROLOGY
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Page Numbers: pp.55-57
- Istanbul University Affiliated: Yes
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.