MR Imaging Findings in Xp21.2 Duplication Syndrome

Authors

  • Matthew T. Whitehead
  • Guy Helman
  • Andrea L. Gropman

DOI:

https://doi.org/10.3941/jrcr.v10i5.2563

Keywords:

Xq21.2 duplication, hypothalamus, corpus callosum, fornix, vermis, olfactory

Abstract

Xp21.2 duplication syndrome is a rare genetic disorder of undetermined prevalence and clinical relevance. As the use of chromosomal microarray has become first line for the work-up of childhood developmental delay, more gene deletions and duplications have been recognized. To the best of our knowledge, the imaging findings of Xp21.2 duplication syndrome have not been reported. We report a case of a 33 month-old male referred for developmental delay that was found to have an Xp21.2 duplication containing IL1RAPL1 and multiple midline brain malformations.

Author Biographies

Matthew T. Whitehead

Department of Neuroradiology

Guy Helman

Department of Neurology

Andrea L. Gropman

Department of Neurology

Published

2016-05-28

Issue

Section

Neuroradiology