MR Imaging Findings in Xp21.2 Duplication Syndrome.
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ABSTRACT:
SUBMITTER: Whitehead MT
PROVIDER: S-EPMC5065289 | biostudies-other | 2016 May
REPOSITORIES: biostudies-other
Publications
MR Imaging Findings in Xp21.2 Duplication Syndrome.
Whitehead Matthew T MT Helman Guy G Gropman Andrea L AL
Journal of radiology case reports 20160531 5
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 co ...[more]
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