M. Kirchhoff, A. Bisgaard, M. Duno, F. Hansen, and M. Schwartz, A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features, European Journal of Medical Genetics, vol.50, issue.4, pp.256-263, 2007.
DOI : 10.1016/j.ejmg.2007.05.001

T. Chiyonobu, S. Hayashi, and K. Kobayashi, Partial tandem duplication of GRIA3 in a male with mental retardation, Am J Med Genet A, vol.143, issue.13, pp.1448-1455, 2007.

C. Shaw-smith, A. Pittman, and L. Willatt, Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability, Nature Genetics, vol.44, issue.9, pp.1032-1037, 2006.
DOI : 10.1093/hmg/ddh138

L. Weiss, Y. Shen, and J. Korn, Association between Microdeletion and Microduplication at 16p11.2 and Autism, New England Journal of Medicine, vol.358, issue.7, pp.667-675, 2008.
DOI : 10.1056/NEJMoa075974

URL : http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.205.9518

H. Jacquet, C. Demily, and E. Houy, Hyperprolinemia is a risk factor for schizoaffective disorder, Molecular Psychiatry, vol.92, issue.5, pp.479-485, 2005.
DOI : 10.1016/j.brainres.2003.08.014

R. Kumar, S. Karamohamed, and J. Sudi, Recurrent 16p11.2 microdeletions in autism, Human Molecular Genetics, vol.17, issue.4, pp.628-638, 2008.
DOI : 10.1093/hmg/ddm376

S. Cooper, E. Smiley, and J. Morrison, Psychosis and adults with intellectual disabilities, Social Psychiatry and Psychiatric Epidemiology, vol.46, issue.7, pp.530-536, 2007.
DOI : 10.1007/s00127-007-0197-9

E. Fombonne, The epidemiology of autism: a review, Psychological Medicine, vol.29, issue.4, pp.769-786, 1999.
DOI : 10.1017/S0033291799008508

H. Stefansson, D. Rujescu, and S. Cichon, Large recurrent microdeletions associated with schizophrenia, Nature, vol.1, issue.7210, pp.232-236, 2008.
DOI : 10.1038/nature07229

H. Mefford, A. Sharp, and C. Baker, Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes, New England Journal of Medicine, vol.359, issue.16, pp.1685-1699, 2008.
DOI : 10.1056/NEJMoa0805384

H. Kim, S. Kishikawa, and A. Higgins, Disruption of Neurexin 1 Associated with Autism Spectrum Disorder, The American Journal of Human Genetics, vol.82, issue.1, pp.199-207, 2008.
DOI : 10.1016/j.ajhg.2007.09.011

F. Zahir, A. Baross, and A. Delaney, A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1??, Journal of Medical Genetics, vol.45, issue.4, pp.239-243, 2008.
DOI : 10.1136/jmg.2007.054437

T. Dijkhuizen, T. Van-essen, and P. Van-der-vlies, FISH and array-CGH analysis of a complex chromosome 3 aberration suggests that loss of CNTN4 and CRBN contributes to mental retardation in 3pter deletions, Am J Med Genet A, vol.140, issue.22, pp.2482-2487, 2006.

J. Roohi, C. Montagna, and D. Tegay, Disruption of contactin 4 in three subjects with autism spectrum disorder, Journal of Medical Genetics, vol.46, issue.3, 2008.
DOI : 10.1136/jmg.2008.057505

M. Meins, J. Lehmann, and F. Gerresheim, Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome, Journal of Medical Genetics, vol.42, issue.2, p.12, 2005.
DOI : 10.1136/jmg.2004.023804

H. Kakinuma, M. Ozaki, H. Sato, and H. Takahashi, Variation in GABA-A subunit gene copy number in an autistic patient with mosaic 4 p duplication (p12p16), American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, vol.11, issue.6, 2007.
DOI : 10.1002/ajmg.b.30663

J. Friedman, T. Vrijenhoek, and S. Markx, CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy, Molecular Psychiatry, vol.48, issue.3, pp.261-266, 2008.
DOI : 10.1073/pnas.92.17.7612

E. Klopocki, B. Fiebig, and P. Robinson, A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2, American Journal of Medical Genetics Part A, vol.108, issue.8, pp.873-877, 2006.
DOI : 10.1002/ajmg.a.31163

P. Bolton, N. Dennis, and C. Browne, The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders, American Journal of Medical Genetics, vol.5, issue.8
DOI : 10.1002/ajmg.1551

E. Cook, . Jr, V. Lindgren, and B. Leventhal, Autism or atypical autism in maternally but not paternally derived proximal 15q duplication, Am J Hum Genet . Apr, vol.60, issue.4, pp.928-934, 1997.

A. Sharp, H. Mefford, and K. Li, A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures, Nature Genetics, vol.143, issue.3, pp.322-328, 2008.
DOI : 10.1006/meth.2001.1262

S. Chocholska, E. Rossier, G. Barbi, and H. Kehrer-sawatzki, Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2-22.3 with a highly variable phenotype in female carriers, American Journal of Medical Genetics Part A, vol.94, issue.6, pp.604-610, 2006.
DOI : 10.1002/ajmg.a.31145

L. Kent, J. Emerton, and V. Bhadravathi, X linked ichthyosis (steroid sulphatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits, J Med Genet, 2008.

A. Lawson-yuen, J. Saldivar, S. Sommer, and J. Picker, Familial deletion within NLGN4 associated with autism and Tourette syndrome, European Journal of Human Genetics, vol.82, issue.5, pp.614-618, 2008.
DOI : 10.1038/sj.ejhg.5202006

M. Macarov, M. Zeigler, and J. Newman, Deletions of VCX-A and NLGN4: a variable phenotype including normal intellect, Journal of Intellectual Disability Research, vol.129, issue.5, pp.329-333, 2007.
DOI : 10.1093/hmg/ddi186

H. Jin, R. Gardner, R. Viswesvaraiah, F. Muntoni, and R. Roberts, Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1???Xp21.3 mental retardation, European Journal of Human Genetics, vol.8, issue.2, pp.87-94, 2000.
DOI : 10.1038/sj.ejhg.5200415

D. Del-gaudio, P. Fang, and F. Scaglia, Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males, Genetics in Medicine, vol.174, issue.12, pp.784-792, 2006.
DOI : 10.1097/01.gim.0000250502.28516.3c