title: MR Imaging Findings in Xp21.2 Duplication Syndrome.
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.
authors.affiliation: Department of Neuroradiology, Children's National Medical Center, Washington, D.C., USA.
authors.forename: Matthew T
authors.initials: MT
authors.lastname: Whitehead
authors.affiliation: Department of Neurology, Children's National Medical Center, Washington, D.C., USA.
authors.forename: Guy
authors.initials: G
authors.lastname: Helman
authors.affiliation: Department of Neurology, Children's National Medical Center, Washington, D.C., USA.
authors.forename: Andrea L
authors.initials: AL
authors.lastname: Gropman
mesh_terms: D000015:Abnormalities, Multiple; D001921:Brain / Q000002:abnormalities*; D002675:Child, Preschool; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D041321:Chromosomes, Human, X / Q000235:genetics*; D003937:Diagnosis, Differential; D020440:Gene Duplication; D020131:Genes, Duplicate / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D013577:Syndrome
keywords: Xq21.2 duplication; corpus callosum; fornix; hypothalamus; olfactory; vermis