B. Abrahams and D. Geschwind, Advances in autism genetics: on the threshold of a new neurobiology, Nature Reviews Genetics, vol.9, issue.5, pp.341-55, 2008.
DOI : 10.1038/nrg2346

M. Aldred, R. Sanford, N. Thomas, M. Barrow, L. Wilson et al., Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes, Journal of Medical Genetics, vol.41, issue.6, pp.433-442, 2004.
DOI : 10.1136/jmg.2003.017202

A. Genome and P. Consortium, Mapping autism risk loci using genetic linkage and chromosomal rearrangements, Nat Genet, vol.39, pp.319-347, 2007.

A. Battaglia and M. Bonaglia, The yield of subtelomeric FISH analysis in the evaluation of autistic spectrum disorders, American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol.71, issue.1, pp.8-12, 2006.
DOI : 10.1002/ajmg.c.30077

K. Casas, T. Mononen, C. Mikail, S. Hassed, S. Li et al., Chromosome 2q terminal deletion: Report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals, American Journal of Medical Genetics, vol.20, issue.4, 2004.
DOI : 10.1002/ajmg.a.30156

D. Castermans, V. Wilquet, J. Steyaert, W. Van-de-ven, J. Fryns et al., Chromosomal Anomalies in Individuals with Autism: A Strategy towards the Identification of Genes Involved in Autism, Autism, vol.8, issue.2, pp.141-61, 2004.
DOI : 10.1177/1362361304042719

S. Chakrabarti and E. Fombonne, Pervasive Developmental Disorders in Preschool Children: Confirmation of High Prevalence, American Journal of Psychiatry, vol.162, issue.6, pp.1133-1174, 2005.
DOI : 10.1176/appi.ajp.162.6.1133

B. Conrad, G. Dewald, E. Christensen, M. Lopez, J. Higgins et al., Clinical phenotype associated with terminal 2q37 deletion, Clinical Genetics, vol.20, issue.Suppl: A308, pp.134-143, 1995.
DOI : 10.1111/j.1399-0004.1995.tb04073.x

W. Courtens, D. Grossman, N. Van-roy, L. Messiaen, E. Vamos et al., Noonan-like phenotype in monozygotic twins with a duplication-deficiency of the long arm of chromosome 18 resulting from a maternal paracentric inversion, Human Genetics, vol.103, issue.4, pp.497-505, 1998.
DOI : 10.1007/s004390050857

D. Bella, M. Cali, F. Seidita, G. Mirisola, M. Ragusa et al., Screening of subtelomeric rearrangements in autistic disorder: Identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocation, American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, vol.35, issue.6, pp.584-90, 2006.
DOI : 10.1002/ajmg.b.30328

R. Falk and K. Casas, Chromosome 2q37 deletion: Clinical and molecular aspects, American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol.4, issue.4, pp.357-71, 2007.
DOI : 10.1002/ajmg.c.30153

B. Felder, B. Radlwimmer, A. Benner, A. Mincheva, G. Todt et al., FARP2, HDLBP and PASK are downregulated in a patient with autism and 2q37.3 deletion syndrome, American Journal of Medical Genetics Part A, vol.43, issue.5, pp.952-961, 2009.
DOI : 10.1002/ajmg.a.32779

J. Fryns, A. Kleczkowska, and H. Van-den-berghe, Paracentric inversions in man, Human Genetics, vol.32, issue.3, pp.205-218, 1986.
DOI : 10.1007/BF00401228

C. Galasso, A. Lo-castro, C. Lalli, A. Nardone, F. Gullotta et al., Deletion 2q37: An Identifiable Clinical Syndrome With Mental Retardation and Autism, Journal of Child Neurology, vol.23, issue.7, pp.802-808, 2008.
DOI : 10.1177/0883073808314150

M. Ghaziuddin and M. Burmeister, Deletion of chromosome 2q37 and autism: a distinct subtype?, Journal of Autism and Developmental Disorders, vol.29, issue.3, pp.259-63, 1999.
DOI : 10.1023/A:1023088207468

J. Hellemans, G. Mortier, D. Paepe, A. Speleman, F. Vandesompele et al., qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data, Genome Biology, vol.8, issue.2, p.19, 2007.
DOI : 10.1186/gb-2007-8-2-r19

A. Itsara, G. Cooper, C. Baker, S. Girirajan, J. Li et al., Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease, The American Journal of Human Genetics, vol.84, issue.2, pp.148-61, 2009.
DOI : 10.1016/j.ajhg.2008.12.014

S. Kitsiou-tzeli, C. Sismani, M. Ioannides, S. Bashiardes, A. Ketoni et al., Array-CGH analysis and clinical description of 2q37.3 de novo subtelomeric deletion, European Journal of Medical Genetics, vol.50, issue.1, pp.73-81, 2007.
DOI : 10.1016/j.ejmg.2006.09.004

S. Knight and J. Flint, Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis, Journal of Medical Genetics, vol.37, issue.6, pp.401-410, 2000.
DOI : 10.1136/jmg.37.6.401

C. Lord, M. Rutter, L. Couteur, and A. , Autism Diagnostic Interview-Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders, Journal of Autism and Developmental Disorders, vol.93, issue.5, pp.659-85, 1994.
DOI : 10.1007/BF02172145

T. Lukusa, E. Smeets, A. Vogels, J. Vermeesch, and J. Fryns, Terminal 2q37 deletion and autistic behaviour, Genet Couns, vol.16, pp.179-80, 2005.

K. Madan, Paracentric inversions: a review, Human Genetics, vol.96, issue.5, pp.503-518, 1995.
DOI : 10.1007/BF00197403

K. Madan and A. Nieuwint, Reproductive risks for paracentric inversion heterozygotes: Inversion or insertion? That is the question, American Journal of Medical Genetics, vol.60, issue.4, pp.340-343, 2002.
DOI : 10.1002/ajmg.10173

C. Marshall, A. Noor, J. Vincent, A. Lionel, L. Feuk et al., Structural Variation of Chromosomes in Autism Spectrum Disorder, The American Journal of Human Genetics, vol.82, issue.2, pp.477-88, 2008.
DOI : 10.1016/j.ajhg.2007.12.009

K. Ounap, T. Ilus, P. Laidre, O. Uibo, P. Tammur et al., A new case of 2q duplication supports either a locus for orofacial clefting between markers D2S1897 and D2S2023 or a locus for cleft palate only on chromosome 2q13-q21, Am J Med Genet A, vol.137, pp.323-330, 2005.

M. Pettenati, P. Rao, M. Phelan, F. Grass, K. Rao et al., Paracentric inversions in humans: A review of 446 paracentric inversions with presentation of 120 new cases, American Journal of Medical Genetics, vol.47, issue.2, pp.171-87, 1995.
DOI : 10.1002/ajmg.1320550207

K. Reddy, Cytogenetic abnormalities and fragile-x syndrome in Autism Spectrum Disorder, BMC Medical Genetics, vol.27, issue.2, p.3, 2005.
DOI : 10.1023/A:1022155201662

J. Sebat, B. Lakshmi, D. Malhotra, J. Troge, C. Lese-martin et al., Strong Association of De Novo Copy Number Mutations with Autism, Science, vol.316, issue.5823, pp.445-454, 2007.
DOI : 10.1126/science.1138659

M. Smith, J. Escamilla, P. Filipek, M. Bocian, C. Modahl et al., Molecular genetic delineation of 2q37.3 deletion in autism and osteodystrophy: report of a case and of new markers for deletion screening by PCR, Cytogenetic and Genome Research, vol.94, issue.1-2, pp.15-22, 2001.
DOI : 10.1159/000048775

J. Veenstra-vanderweele, S. Christian, E. Cook, and J. , AUTISM AS A PARADIGMATIC COMPLEX GENETIC DISORDER, Annual Review of Genomics and Human Genetics, vol.5, issue.1, pp.379-405, 2004.
DOI : 10.1146/annurev.genom.5.061903.180050

J. Vorstman, W. Staal, E. Van-daalen, H. Van-engeland, P. Hochstenbach et al., Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism, Molecular Psychiatry, vol.38, issue.1, pp.18-28, 2006.
DOI : 10.1038/sj.mp.4001757

T. Wassink, M. Losh, J. Piven, V. Sheffield, E. Ashley et al., Systematic Screening for Subtelomeric Anomalies in a Clinical Sample of Autism, Journal of Autism and Developmental Disorders, vol.4, issue.4, pp.703-711, 2007.
DOI : 10.1007/s10803-006-0196-9

T. Wassink, J. Piven, V. Vieland, L. Jenkins, R. Frantz et al., Evaluation of the chromosome 2q37, 2005.

D. Wolff, K. Clifton, C. Karr, and C. J. , Pilot assessment of the subtelomeric regions of children with autism: Detection of a 2q deletion, Genetics in Medicine, vol.67, issue.1, pp.10-14, 2002.
DOI : 10.1097/00125817-200201000-00002