Video Upload Options

References

1. Abu-Amero S, Monk D, Frost J, Preece M, Stanier P, Moore GE. The geneticaetiology of Silver-Russell syndrome. J Med Genet. 2008 Apr;45(4):193-9.
2. Berg JS, Brunetti-Pierri N, Peters SU, Kang SH, Fong CT, Salamone J,Freedenberg D, Hannig VL, Prock LA, Miller DT, Raffalli P, Harris DJ, EricksonRP, Cunniff C, Clark GD, Blazo MA, Peiffer DA, Gunderson KL, Sahoo T, Patel A,Lupski JR, Beaudet AL, Cheung SW. Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndromeregion. Genet Med. 2007 Jul;9(7):427-41.
3. Gilbert F. Chromosome 7. Genet Test. 2002 Summer;6(2):141-61.
4. Hillier LW, Fulton RS, Fulton LA, Graves TA, Pepin KH, Wagner-McPherson C,Layman D, Maas J, Jaeger S, Walker R, Wylie K, Sekhon M, Becker MC, O'LaughlinMD, Schaller ME, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Cordes M, Du H, SunH, Edwards J, Bradshaw-Cordum H, Ali J, Andrews S, Isak A, Vanbrunt A, Nguyen C, Du F, Lamar B, Courtney L, Kalicki J, Ozersky P, Bielicki L, Scott K, Holmes A,Harkins R, Harris A, Strong CM, Hou S, Tomlinson C, Dauphin-Kohlberg S,Kozlowicz-Reilly A, Leonard S, Rohlfing T, Rock SM, Tin-Wollam AM, Abbott A, MinxP, Maupin R, Strowmatt C, Latreille P, Miller N, Johnson D, Murray J, WoessnerJP, Wendl MC, Yang SP, Schultz BR, Wallis JW, Spieth J, Bieri TA, Nelson JO,Berkowicz N, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, BedellJA, Mardis ER, Clifton SW, Chissoe SL, Marra MA, Raymond C, Haugen E, Gillett W, Zhou Y, James R, Phelps K, Iadanoto S, Bubb K, Simms E, Levy R, Clendenning J,Kaul R, Kent WJ, Furey TS, Baertsch RA, Brent MR, Keibler E, Flicek P, Bork P,Suyama M, Bailey JA, Portnoy ME, Torrents D, Chinwalla AT, Gish WR, Eddy SR,McPherson JD, Olson MV, Eichler EE, Green ED, Waterston RH, Wilson RK. The DNAsequence of human chromosome 7. Nature. 2003 Jul 10;424(6945):157-64.
5. Johnston JJ, Olivos-Glander I, Turner J, Aleck K, Bird LM, Mehta L, SchimkeRN, Heilstedt H, Spence JE, Blancato J, Biesecker LG. Clinical and moleculardelineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome. Am J Med Genet A. 2003 Dec15;123A(3):236-42.
6. Lichtenbelt KD, Hochstenbach R, van Dam WM, Eleveld MJ, Poot M, Beemer FA.Supernumerary ring chromosome 7 mosaicism: case report, investigation of the genecontent, and delineation of the phenotype. Am J Med Genet A. 2005 Jan1;132A(1):93-100. Review.
7. Merla G, Brunetti-Pierri N, Micale L, Fusco C. Copy number variants atWilliams-Beuren syndrome 7q11.23 region. Hum Genet. 2010 Jul;128(1):3-26. doi:10.1007/s00439-010-0827-2.
8. Orellana C, Bernabeu J, Monfort S, Roselló M, Oltra S, Ferrer I, Quiroga R,Martínez-Garay I, Martínez F. Duplication of the Williams-Beuren critical region:case report and further delineation of the phenotypic spectrum. J Med Genet. 2008Mar;45(3):187-9. doi: 10.1136/jmg.2007.054064.
9. Osborne LR, Mervis CB. Rearrangements of the Williams-Beuren syndrome locus:molecular basis and implications for speech and language development. Expert Rev Mol Med. 2007 Jun 13;9(15):1-16. Review.
10. Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA,Carson AR, Parker-Katiraee L, Skaug J, Khaja R, Zhang J, Hudek AK, Li M, HaddadM, Duggan GE, Fernandez BA, Kanematsu E, Gentles S, Christopoulos CC, Choufani S,Kwasnicka D, Zheng XH, Lai Z, Nusskern D, Zhang Q, Gu Z, Lu F, Zeesman S,Nowaczyk MJ, Teshima I, Chitayat D, Shuman C, Weksberg R, Zackai EH, Grebe TA,Cox SR, Kirkpatrick SJ, Rahman N, Friedman JM, Heng HH, Pelicci PG, Lo-Coco F,Belloni E, Shaffer LG, Pober B, Morton CC, Gusella JF, Bruns GA, Korf BR, QuadeBJ, Ligon AH, Ferguson H, Higgins AW, Leach NT, Herrick SR, Lemyre E, Farra CG,Kim HG, Summers AM, Gripp KW, Roberts W, Szatmari P, Winsor EJ, Grzeschik KH,Teebi A, Minassian BA, Kere J, Armengol L, Pujana MA, Estivill X, Wilson MD, KoopBF, Tosi S, Moore GE, Boright AP, Zlotorynski E, Kerem B, Kroisel PM, Petek E,Oscier DG, Mould SJ, Döhner H, Döhner K, Rommens JM, Vincent JB, Venter JC, LiPW, Mural RJ, Adams MD, Tsui LC. Human chromosome 7: DNA sequence and biology.Science. 2003 May 2;300(5620):767-72.
11. Somerville MJ, Mervis CB, Young EJ, Seo EJ, del Campo M, Bamforth S, PeregrineE, Loo W, Lilley M, Pérez-Jurado LA, Morris CA, Scherer SW, Osborne LR. Severeexpressive-language delay related to duplication of the Williams-Beuren locus. N Engl J Med. 2005 Oct 20;353(16):1694-701.
12. Tomblin JB, O'Brien M, Shriberg LD, Williams C, Murray J, Patil S, Bjork J,Anderson S, Ballard K. Language features in a mother and daughter of a chromosome7;13 translocation involving FOXP2. J Speech Lang Hear Res. 2009Oct;52(5):1157-74. doi: 10.1044/1092-4388(2009/07-0162).
13. Van der Aa N, Rooms L, Vandeweyer G, van den Ende J, Reyniers E, Fichera M,Romano C, Delle Chiaie B, Mortier G, Menten B, Destrée A, Maystadt I, Männik K,Kurg A, Reimand T, McMullan D, Oley C, Brueton L, Bongers EM, van Bon BW, PfundR, Jacquemont S, Ferrarini A, Martinet D, Schrander-Stumpel C, Stegmann AP,Frints SG, de Vries BB, Ceulemans B, Kooy RF. Fourteen new cases contribute tothe characterization of the 7q11.23 microduplication syndrome. Eur J Med Genet.2009 Mar-Jun;52(2-3):94-100. doi: 10.1016/j.ejmg.2009.02.006.
14. Velagaleti GV, Jalal SM, Kukolich MK, Lockhart LH, Tonk VS. De novosupernumerary ring chromosome 7: first report of a non-mosaic patient and review of the literature. Clin Genet. 2002 Mar;61(3):202-6. Review.
15. Zeesman S, Nowaczyk MJ, Teshima I, Roberts W, Cardy JO, Brian J, Senman L,Feuk L, Osborne LR, Scherer SW. Speech and language impairment and oromotordyspraxia due to deletion of 7q31 that involves FOXP2. Am J Med Genet A. 2006 Mar1;140(5):509-14.