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Mr Imaging Findings In Xp21.2 Duplication Syndrome, Matthew T. Whitehead, Guy Helman, Andrea L. Gropman
Mr Imaging Findings In Xp21.2 Duplication Syndrome, Matthew T. Whitehead, Guy Helman, Andrea L. Gropman
Radiology Faculty Publications
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.