Journal of Radiology Case Reports, Vol 10, No 5 (2016)

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MR Imaging Findings in Xp21.2 Duplication Syndrome

MR Imaging Findings in Xp21.2 Duplication Syndrome

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

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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.

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