S. Cassidy, J. Conroy, L. Becker, and S. Schwartz, Paternal triplication of 15q11-q13 in a hypotonic, developmentally delayed child without Prader-Willi or Angelman syndrome. Abstracts for the Ninth Annual Scientific Conference of the Prader-Willi Syndrome (PWS) Association, Am J Med Genet, vol.62, pp.206-213, 1996.

P. Ungaro, S. Christian, J. Fantes, A. Mutirangura, S. Black et al., Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14, Journal of Medical Genetics, vol.38, issue.1, pp.26-34, 2001.
DOI : 10.1136/jmg.38.1.26

A. Dimitropoulos and R. Schultz, Autistic-like symptomatology in Prader-Willi syndrome: A review of recent findings, Current Psychiatry Reports, vol.16, issue.Suppl1, pp.159-64, 2007.
DOI : 10.1007/s11920-007-0086-7

S. Steffenburg, C. Gillberg, U. Steffenburg, and M. Kyllerman, Autism in Angelman syndrome: a population-based study, Pediatric Neurology, vol.14, issue.2, pp.131-137, 1996.
DOI : 10.1016/0887-8994(96)00011-2

C. Williams, A. Beaudet, J. Clayton-smith, J. Knoll, M. Kyllerman et al., Angelman syndrome 2005: Updated consensus for diagnostic criteria, American Journal of Medical Genetics Part A, vol.7, issue.5, pp.413-421, 2006.
DOI : 10.1002/ajmg.a.31074

S. Murthy, A. Nygren, E. Shakankiry, H. Schouten, J. et al., Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment, Cytogenetic and Genome Research, vol.116, issue.1-2, pp.135-175, 2007.
DOI : 10.1159/000097433

M. Seleme, T. Shaikh, M. Lincicum, M. Sathanoori, U. Surti et al., Chromosome 15q11.2 copy number variants (CNV): population frequency and clinical implications . Presented at the annual meeting of The American Society of Human Genetics, 2007.

M. Butler, D. Bittel, N. Kibiryeva, Z. Talebizadeh, and T. Thompson, Behavioral Differences Among Subjects With Prader-Willi Syndrome and Type I or Type II Deletion and Maternal Disomy, PEDIATRICS, vol.113, issue.3, pp.565-73, 2004.
DOI : 10.1542/peds.113.3.565

D. Bittel, N. Kibiryeva, and M. Butler, Expression of 4 Genes Between Chromosome 15 Breakpoints 1 and 2 and Behavioral Outcomes in Prader-Willi Syndrome, PEDIATRICS, vol.118, issue.4, pp.1276-83, 2006.
DOI : 10.1542/peds.2006-0424

H. Stefansson, D. Rujescu, S. Cichon, O. Pietilainen, A. Ingason et al., Large recurrent microdeletions associated with schizophrenia, Nature, vol.1, issue.7210, pp.232-238, 2008.
DOI : 10.1038/nature07229

URL : http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2687075

Y. Nishimura, C. Martin, A. Vazquez-lopez, S. Spence, A. Alvarez-retuerto et al., Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways, Human Molecular Genetics, vol.16, issue.14, pp.1682-98, 2007.
DOI : 10.1093/hmg/ddm116

URL : https://hal.archives-ouvertes.fr/pasteur-00161589

S. Roberts, N. Dennis, C. Browne, L. Willatt, G. Woods et al., Characterisation of interstitial duplications and triplications of chromosome, pp.15-26, 2002.

M. Veltman, R. Thompson, E. Craig, N. Dennis, S. Roberts et al., A Paternally Inherited Duplication in the Prader-Willi/ Angelman Syndrome Critical Region: A Case and Family Study, Journal of Autism and Developmental Disorders, vol.5, issue.4, pp.117-144, 2005.
DOI : 10.1007/s10803-004-1039-1