| 1 | DUPXQ28, IKBKG, MECP2
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| NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications.
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| Philippe O, Rio M, Malan V, Van Esch H, Baujat G, Bahi-Buisson N, Valayannopoulos V, Gesny R, Bonnefont JP, Munnich A, Froyen G, Amiel J, Boddaert N, Colleaux L.
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| Eur J Hum Genet 21(2):195-9. doi: 10.1038/ejhg.2012.140. Epub 2012 Jul 18.
2013
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| 2 | DUPXQ28, MECP2
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| Characterization of six novel patients with MECP2 duplications due to unbalanced rearrangements of the X chromosome.
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| Sanmann JN, Bishay DL, Starr LJ, Bell CA, Pickering DL, Stevens JM, Kahler SG, Olney AH, Schaefer GB, Sanger WG.
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| Am J Med Genet A 158A(6):1285-91. doi: 10.1002/ajmg.a.35347. Epub 2012 May 11.
2012
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| 3 | DUPXQ28, MECP2
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| MECP2 duplications in six patients with complex sex chromosome rearrangements.
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| Breman AM, Ramocki MB, Kang SH, Williams M, Freedenberg D, Patel A, Bader PI, Cheung SW.
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| Eur J Hum Genet 19(4):409-15. Epub 2010 Dec 1.
2011
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| 4 | DUPXQ28, MECP2
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| Four unrelated patients with lubs X-linked mental retardation syndrome and different Xq28 duplications.
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| Bartsch O, Gebauer K, Lechno S, van Esch H, Froyen G, Bonin M, Seidel J, Thamm-Mücke B, Horn D, Klopocki E, Hertzberg C, Zechner U, Haaf T.
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| Am J Med Genet A 152A(2):305-12.
2010
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| 5 | DUPXQ27, DUPXQ28, FMR1
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| Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition.
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| Rio M, Malan V, Boissel S, Toutain A, Royer G, Gobin S, Morichon-Delvallez N, Turleau C, Bonnefont JP, Munnich A, Vekemans M, Colleaux L.
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| Eur J Hum Genet 18(3):285-90. Epub 2009 Oct 21.PMID: 19844254 2010
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| 6 | DUPXQ28, MECP2
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| Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28.
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| Reardon W, Donoghue V, Murphy AM, King MD, Mayne PD, Horn N, Birk Møller L.
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| Eur J Pediatr ur J Pediatr. 2010 Feb 23. [Epub ahead of print]
2010
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| 7 | DUPXQ28, MECP2
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| An unbalanced translocation resulting in a duplication of Xq28 causes a Rett syndrome-like phenotype in a female patient.
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| Auber B, Burfeind P, Thiels C, Alsat EA, Shoukier M, Liehr T, Nelle H, Bartels I, Salinas-Riester G, Laccone F.
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| Clin Genet lin Genet. 2010 Mar 1. [Epub ahead of print] No abstract available. PMID: 20236119 2010
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| 8 | DUPXQ28, MECP2
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| The MECP2 duplication syndrome.
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| Ramocki MB, Tavyev YJ, Peters SU.
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| Am J Med Genet A 152A(5):1079-88.PMID: 20425814 2010
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| 9 | DUPXQ28, MECP2
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| De-novo 2.15 Mb terminal Xq duplication involving MECP2 but not L1CAM gene in a male patient with mental retardation.
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| Velinov M, Novelli A, Gu H, Fenko M, Dolzhanskaya N, Bernardini L, Capalbo A, Dallapiccola B, Jenkins EC, Brown WT.
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| Clin Dysmorphol 18(1):9-12.
2009
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| 10 | DKC1, DUPXQ28
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| Atypical X-chromosome inactivation in an X;1 translocation patient demonstrating Xq28 functional disomy.
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| Cottrell CE, Sommer A, Wenger GD, Bullard S, Busch T, Krahn KN, Lidral AC, Gastier-Foster JM.
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| Am J Med Genet A 149A(3):408-14.
2009
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| 11 | DUPXQ28, MECP2
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| The clinical variability of the MECP2 duplication syndrome: description of two families with duplications excluding L1CAM and FLNA.
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| Kirk EP, Malaty-Brevaud V, Martini N, Lacoste C, Levy N, Maclean K, Davies L, Philip N, Badens C.
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| Clin Genet 75(3):301-3. Epub 2008 Nov 1. No abstract available.
2009
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| 12 | DUPXQ28
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| Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance.
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| Clayton-Smith J, Walters S, Hobson E, Burkitt-Wright E, Smith R, Toutain A, Amiel J, Lyonnet S, Mansour S, Fitzpatrick D, Ciccone R, Ricca I, Zuffardi O, Donnai D.
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| Eur J Hum Genet 17(4):434-43. Epub 2008 Oct 15.
2009
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| 13 | DUPXQ28, MECP2, RTTM
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| Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.
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| Lugtenberg D, Kleefstra T, Oudakker AR, Nillesen WM, Yntema HG, Tzschach A, Raynaud M, Rating D, Journel H, Chelly J, Goizet C, Lacombe D, Pedespan JM, Echenne B, Tariverdian G, O'Rourke D, King MD, Green A, van Kogelenberg M, Van Esch H, Gecz J, Hamel BC, van Bokhoven H, de Brouwer AP.
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| Eur J Hum Genet 17(4):444-53. Epub 2008 Nov 5. 2009
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| 14 | DUPXQ28, MECP2
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| Two brothers with a microduplication including the MECP2 gene: rapid head growth in infancy and resolution of susceptibility to infection.
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| Prescott TE, Rødningen OK, Bjørnstad A, Stray-Pedersen A.
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| Clin Dysmorphol 18(2):78-82.
2009
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| 15 | DUPXQ28, MECP2
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| Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.
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| Carvalho CM, Zhang F, Liu P, Patel A, Sahoo T, Bacino CA, Shaw C, Peacock S, Pursley A, Tavyev YJ, Ramocki MB, Nawara M, Obersztyn E, Vianna-Morgante AM, Stankiewicz P, Zoghbi HY, Cheung SW, Lupski JR.
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| Hum Mol Genet 18(12):2188-203. Epub 2009 Mar 26.
2009
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| 16 | DUPXQ28, GDI1
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| Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.
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| Vandewalle J, Van Esch H, Govaerts K, Verbeeck J, Zweier C, Madrigal I, Mila M, Pijkels E, Fernandez I, Kohlhase J, Spaich C, Rauch A, Fryns JP, Marynen P, Froyen G.
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| Am J Hum Genet 85(6):809-22.
2009
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| 17 | DUPXQ28, MECP2
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| Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome.
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| Ramocki MB, Peters SU, Tavyev YJ, Zhang F, Carvalho CM, Schaaf CP, Richman R, Fang P, Glaze DG, Lupski JR, Zoghbi HY.
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| Ann Neurol 66(6):771-82.
2009
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| 18 | DUPXQ28, MECP2
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| Neurologic aspects of MECP2 gene duplication in male patients.
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| Echenne B, Roubertie A, Lugtenberg D, Kleefstra T, Hamel BC, Van Bokhoven H, Lacombe D, Philippe C, Jonveaux P, de Brouwer AP.
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| Pediatr Neurol 41(3):187-91.PMID: 19664534 2009
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| 19 | DUPXQ28, SHOX, SOX3
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| Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes.
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| Bleyl SB, Byrne JL, South ST, Dries DC, Stevenson DA, Rope AF, Vianna-Morgante AM, Schoenwolf GC, Kivlin JD, Brothman A, Carey JC.
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| Am J Med Genet A 143(23):2785-95. 2007
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| 20 | DUPXQ28, MECP2
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| Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections.
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| Smyk M, Obersztyn E, Nowakowska B, Nawara M, Cheung SW, Mazurczak T, Stankiewicz P, Bocian E.
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| Am J Med Genet B Neuropsychiatr Genet m J Med Genet B Neuropsychiatr Genet. 2007 Dec 28. [Epub ahead of print] 2007
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| 21 | DUPXQ28, MECP2, RTTM
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| Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28.
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| Friez MJ, Jones JR, Clarkson K, Lubs H, Abuelo D, Bier JA, Pai S, Simensen R, Williams C, Giampietro PF, Schwartz CE, Stevenson RE.
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| Pediatrics 118(6):e1687-95. Epub 2006 Nov 6. 2006
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| 22 | MECP2, DUPXQ28
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| Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.
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| del Gaudio D, Fang P, Scaglia F, Ward PA, Craigen WJ, Glaze DG, Neul JL, Patel A, Lee JA, Irons M, Berry SA, Pursley AA, Grebe TA, Freedenberg D, Martin RA, Hsich GE, Khera JR, Friedman NR, Zoghbi HY, Eng CM, Lupski JR, Beaudet AL, Cheung SW, Roa BB.
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| Genet Med 8(12):784-92. 2006
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| 23 | DUPXQ28, RTTM
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| Functional disomy of the Xq28 chromosome region.
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| Sanlaville D, Prieur M, de Blois MC, Genevieve D, Lapierre JM, Ozilou C, Picq M, Gosset P, Morichon-Delvallez N, Munnich A, Cormier-Daire V, Baujat G, Romana S, Vekemans M, Turleau C.
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| Eur J Hum Genet 13(5):579-85. 2005
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| 24 | DUPXQ28, DUPXQP
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| Xq chromosome duplication in males: clinical, cytogenetic and array CGH characterization of a new case and review.
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| Cheng SF, Rauen KA, Pinkel D, Albertson DG, Cotter PD.
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| Am J Med Genet A 135(3):308-13. Review. 2005
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| 25 | MECP2, DUPXQ28, MRXS31, ESMR,RTTM
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| Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males.
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| Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gecz J, Moraine C, Marynen P, Fryns JP, Froyen G.
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| Am J Hum Genet 77(3):442-53. Epub 2005 Jul 29. 2005
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| 26 | DUPXQ28, DUPXQP, SOX3
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| Duplication of Xq26.2-q27.1, including SOX3, in a mother and daughter with short stature and dyslalia.
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| Stankiewicz P, Thiele H, Schlicker M, Cseke-Friedrich A, Bartel-Friedrich S, Yatsenko SA, Lupski JR, Hansmann I.
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| Am J Med Genet A 138(1):11-7. 2005
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| 27 | MECP2, RTTM, DUPXQ28
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| Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome.
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| Meins M, Lehmann J, Gerresheim F, Herchenbach J, Hagedorn M, Hameister K, Epplen JT.
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| J Med Genet 42(2):e12. 2005
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| 28 | DUPXQ28, MECP2, RTTM
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| Disomy of distal Xq in males: case report and overview.
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| Novelli A, Bernardini L, Salpietro DC, Briuglia S, Merlino MV, Mingarelli R, Dallapiccola B.
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| Am J Med Genet A 128(2):165-9. 2004
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| 29 | DUPXQ28, MECP2, RTTM
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| Functional disomy resulting from duplications of distal Xq in four unrelated patients.
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| Lachlan KL, Collinson MN, Sandford RO, van Zyl B, Jacobs PA, Thomas NS.
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| Hum Genet 115(5):399-408. Epub 2004 Aug 24. 2004
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| 30 | MECP2, RTT, RTTM, DUPXQ28
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| Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication.
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| Ariani F, Mari F, Pescucci C, Longo I, Bruttini M, Meloni I, Hayek G, Rocchi R, Zappella M, Renieri A.
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| Hum Mutat 24(2):172-7. 2004
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| 31 | DUPXP, DUPXPP, DUPXQ28
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| Partial Xp duplication in a girl with dysmorphic features: the change in replication pattern of late-replicating dupX chromosome.
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| Kokalj Vokac N, Seme Ciglenecki P, Erjavec A, Zagradisnik B, Zagorac A.
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| Clin Genet 61(1):54-61. 2002
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| 32 | DUPXQ28
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| Functional disomy for Xq26.3-qter in a boy with an unbalanced t(X;21)(q26.3;p11.2) translocation.
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| Akiyama M, Kawame H, Ohashi H, Tohma T, Ohta H, Shishikura A, Miyata I, Usui N, Eto Y.
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| Am J Med Genet 99(2):111-4. Review. 2001
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| 33 | DUPXQ28
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| Inherited duplication of Xq27.2-->qter: phenocopy of infantile Prader-Willi syndrome.
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| Lammer EJ, Punglia DR, Fuchs AE, Rowe AG, Cotter PD.
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| Clin Dysmorphol 10(2):141-4. 2001
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| 34 | DUPXQ28
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| Opposite deletions/duplications of the X chromosome: two novel reciprocal rearrangements.
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| Giglio S, Pirola B, Arrigo G, Dagrada P, Bardoni B, Bernardi F, Russo G, Argentiero L, Forabosco A, Carrozzo R, Zuffardi O.
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| Eur J Hum Genet 8(1):63-70. 2000
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| 35 | DUPXQ28
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| Inherited duplication Xq27-qter at Xp22.3 in severely affected males: molecular cytogenetic evaluation and clinical description in three unrelated families.
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| Goodman BK, Shaffer LG, Rutberg J, Leppert M, Harum K, Gagos S, Ray JH, Bialer MG, Zhou X, Pletcher BA, Shapira SK, Geraghty MT.
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| Am J Med Genet 80(4):377-84. 1998
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| 36 | DUPXQ28, DUPXQP
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| Molecular cytogenetic identification of four X chromosome duplications.
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| Zhang A, Weaver DD, Palmer CG.
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| Am J Med Genet 68(1):29-38. Review. 1997
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| 37 | DUPXQ28
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| A familial Xp+ chromosome, dup (Xq26.3-->qter).
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| Vasquez AI, Rivera H, Bobadilla L, Crolla JA.
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| J Med Genet 32(11):891-3. 1995
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| 38 | DUPXQ28
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| Xq-Yq interchange resulting in supernormal X-linked gene expression in severely retarded males with 46,XYq- karyotype.
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| Lahn BT, Ma N, Breg WR, Stratton R, Surti U, Page DC.
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| Nat Genet 8(3):243-50. 1994
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