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


Isik U. , Basaran S., Dehgan T., Apak M.

PEDIATRIC NEUROLOGY, vol.39, no.1, pp.55-57, 2008 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 39 Issue: 1
  • Publication Date: 2008
  • Doi Number: 10.1016/j.pediatrneurol.2008.03.012
  • Title of Journal : PEDIATRIC NEUROLOGY
  • Page Numbers: pp.55-57

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.