Journal of Radiology Case Reports
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.
Whitehead, M. T., Helman, G., & Gropman, A. L. (2016). MR imaging findings in Xp21.2 duplication syndrome. Journal of Radiology Case Reports, 10 (5). http://dx.doi.org/10.3941/jrcr.v10i5.2563