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From the manuscript

MR Imaging Findings in Xp21.2 Duplication Syndrome

Free full text article: 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.






References



1. Kniffin C. MENTAL RETARDATION, X-LINKED 21; MRX21 OMIM Number: {300143}, in Online Mendelian Inheritance in Man, OMIM®. 2014, Johns Hopkins University: Baltimore, MD Available at: http://www.omim.org/entry/300143
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2. Carrie A, Jun L, Bienvenu T. A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation. Nat Genet, 1999 23(1): p
Get full text
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3. Kozak L, Chiurazzi P, Genuardi M, Pomponi MG, Zollino M, and Neri G. Mapping of a gene for non-specific X linked mental retardation: evidence for linkage to chromosomal region Xp21.1-Xp22.3. J Med Genet, 1993 30(10): p
Get full text
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4. Valnegri P, Montrasio C, Brambilla D, Ko J, Passafaro M, and Sala C. The X-linked intellectual disability protein IL1RAPL1 regulates excitatory synapse formation by binding PTPdelta and RhoGAP2. Hum Mol Genet, 2011 20(24): p
Get full text
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5. Nawara M, Klapecki J, Borg K. Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family. Am J Med Genet A, 2008 146A(24): p
Get full text
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6. Barbaro M, Oscarson M, Schoumans J, Staaf J, Ivarsson SA, and Wedell A. Isolated 46,XY Gonadal Dysgenesis in Two Sisters Caused by a Xp21.2 Interstitial Duplication Containing the DAX1 Gene. The Journal of Clinical Endocrinology & Metabolism, 2007 92(8): p
Get full text
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7. Honda S, Hayashi S, Imoto I. Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis. J Hum Genet, 2010 55(9): p
Get full text
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8. Piccione M, Sanfilippo C., Cavani S. et al. Molecular and clinical characterization of a small duplication Xp in a human female with psychiatric disorders J Genet, 2011
Get full text
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9. Smith DI, Zhu Y, McAvoy S, and Kuhn R. Common fragile sites, extremely large genes, neural development and cancer. Cancer Lett, 2006 232(1): p
Get full text
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10. Yoshida T, Yasumura M, Uemura T. IL-1 receptor accessory protein-like 1 associated with mental retardation and autism mediates synapse formation by trans-synaptic interaction with protein tyrosine phosphatase delta. J Neurosci, 2011 31(38): p
Get full text
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11. Redin, C, Gérard B, Lauer J. Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. Journal of Medical Genetics, 2014 51(11): p.724-36
Get full text
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12. Whitehead MT and Vezina G. Tuber cinereum diverticula in a 28-month-old with xq21 deletion syndrome. Case Rep Radiol, 2014 2014: p
Get full text
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1. Xq21.2 duplication

2. hypothalamus

3. corpus callosum

4. fornix

5. vermis

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