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Autor     E.K. Bijlsma, A.C.J. Gijsbers, J.H.M. Schuurs-Hoeijmakers, A. van Haeringen, D.E. Fransen van de Putte, B.-M. Anderlid, J. Lundin, P. Lapunzina, L.A. Pérez Jurado, B. Delle Chiaie, B. Loeys, B. Menten, A. Oostra, H. Verhelst, D.J. Amor, D.L. Bruno, A.J. van Essen, R. Hordijk, B. Sikkema-Raddatz, K.T. Verbruggen, M.C.J. Jongmans, R. Pfundt, H.M. Reeser, M.H. Breuning, C.A.L. Ruivenkamp
Titel    Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals
Zeitschrift    European Journal of Medical Genetics
Ausgabe    52
Datum    21. March 2009
Seiten    77-87
DOI    10.1016/j.ejmg.2009.03.006
URL    http://www.sciencedirect.com/science/article/pii/S1769721209000214

Literaturverz.   

no
Fußnoten    no
Fragmente    1


Fragmente der Quelle:
[1.] Mmu/Fragment 016 08 - Diskussion
Zuletzt bearbeitet: 2014-12-16 09:34:53 Singulus
Bijlsma et al 2009, Fragment, Gesichtet, Mmu, SMWFragment, Schutzlevel sysop, Verschleierung

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Seite: 16, Zeilen: 8-18
Quelle: Bijlsma et al 2009
Seite(n): 83, Zeilen: left col. 9-12 - right col. 1-6, 7-10
Weiss et al. reported a recurrent microdeletion on chromosome 16p11.2 in five of 751 families with one or more cases with ASD, in three of 299 ASD patients, in five of 512 children referred for ID and/or autism (Weiss 2008). The reciprocal duplication was found in 11 patients and in five controls. In another study, the same deletion was detected in four of 712 autistic patients and none of 837 controls (Kumar 2008). The latter study identified the reciprocal duplication in one autism case and two controls. Similarly, Marshall et al. detected two de novo 16p11.2 deletions in 427 families with autism (Marshall 2008). The authors stated that deletions and duplications of 16p11.2 carry substantial susceptibility to autism, and that the deletions appear to account for approximately 1% of cases.

37. Kumar RA, et al. Recurrent 16p11.2 microdeletions in autism. Hum Mol Genet 2008;17:628e38.

48.Marshall CR, et al. Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet 2008;82:477– 488.

86.Weiss LA, et al. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 2008;358:667e75.

Weiss et al. reported a recurrent microdeletion on chromosome 16p11.2 in five of 751 families with one or more cases with ASD, in three of 299 ASD patients, in five of 512 children referred for MR and/or autism, and in two of 18,834 Icelandic controls who had not been screened for psychiatric or language disorders [22]. The reciprocal duplication was found in 11 patients and in five controls. In another study, the same deletion was detected in four of 712 autistic patients and none of 837 controls [10]. This study identified the reciprocal duplication in one autism case and two controls. Similarly, Marshall et al. detected two de novo 16p11.2 deletions in 427 families with autism [13]. In this series, the reciprocal duplication was also found twice. The authors stated that deletions and duplications of 16p11.2 carry substantial susceptibility to autism, and that the deletions appear to account for approximately 1% of cases.

[10] R.A. Kumar, S. KaraMohamed, J. Sudi, D.F. Condrad, C. Brune, J.A. Badner, T.C. Gilliam, N.J. Nowak, E.H. Cook jr., W.B. Dobyns, S.L. Christian, Recurrent 16p11.2 microdeletion [sic] in autism, Hum. Mol. Genet. 17 (2008) 628–638.

[13] C.R. Marshall, A. Noor, J.B. Vincent, A.C. Lionel, L. Feuk, J. Skaug, M. Shago, R. Moessner, D. Pinto, Y. Ren, B. Thiruvahindrapduram, A. Fiebig, S. Schreiber, J. Friedman, C.E. Ketelaars, Y.J. Vos, C. Ficicioglu, S. Kirkpatrick, R. Nicolson, L. Sloman, A. Summers, C.A. Gibbons, A. Teebi, D. Chitayat, R. Weksberg, A. Thompson, C. Vardy, V. Crosbie, S. Luscombe, R. Baatjes, L. Zwaigenbaum, W. Roberts, B. Fernandez, P. Szatmari, S.W. Scherer, Structural variation of chromosomes in autism spectrum disorder, Am. J. Hum. Genet. 82 (2008) 477–488.

[22] L.A. Weiss, D. Yiping Shen, J.M. Korn, D.E. Arking, D.T. Miller, R. Fossdal, E. Seamundsen, H. Stefansson, M.A.R. Ferreira, T. Green, O.S. Platt, D.M. Ruderfer, C.H. Walsh, D. Altshuler, A. Chakravarti, R.E. Tanzi, K. Stefansson, S.L. Santangelo, J.F. Gusella, P. Sklar, B.L. Wu, M.J. Daly, Association between microdeletion and microduplication at 16p11.2 and autism, N. Engl. J. Med. 358 (2007) 1–9.

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