R. Schalock, S. Borthwick-duffy, V. Bradley, W. Buntinx, D. Coulter et al., Intellectual disability: definition, classification, and systems of supports, 2010.

O. Chapitre, Impact des troubles mentaux et du comportement http

N. Roeleveld, G. Zielhuis, and F. Gabreëls, The prevalence of mental retardation: a critical review of recent literature, Developmental Medicine & Child Neurology, vol.22, issue.suppl, pp.125-157, 1997.
DOI : 10.1111/j.1469-8749.1997.tb07395.x

A. Rauch, J. Hoyer, S. Guth, C. Zweier, C. Kraus et al., Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation, American Journal of Medical Genetics Part A, vol.108, issue.19, pp.2063-74, 2006.
DOI : 10.1002/ajmg.a.31416

K. Scior, Public awareness, attitudes and beliefs regarding intellectual disability: A systematic review, Research in Developmental Disabilities, vol.32, issue.6, pp.2164-82, 2011.
DOI : 10.1016/j.ridd.2011.07.005

M. Azar and L. Badr, Predictors of Coping in Parents of Children With an Intellectual Disability: Comparison Between Lebanese Mothers and Fathers, Journal of Pediatric Nursing, vol.25, issue.1, pp.46-56, 2010.
DOI : 10.1016/j.pedn.2008.11.001

G. Sagoo, A. Butterworth, S. Sanderson, C. Shaw-smith, J. Higgins et al., Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects, Genetics in Medicine, vol.149, issue.3, pp.139-185, 2009.
DOI : 10.1097/GIM.0b013e318194ee8f

J. Inlow and L. Restifo, Molecular and Comparative Genetics of Mental Retardation, Genetics, vol.166, issue.2, pp.835-81, 2004.
DOI : 10.1534/genetics.166.2.835

A. Verloes, D. Héron, T. Billette-de-villemeur, A. Afenjar, C. Baumann et al., Strat??gie d???exploration d???une d??ficience intellectuelle inexpliqu??e, Archives de P??diatrie, vol.19, issue.2, pp.194-207, 2012.
DOI : 10.1016/j.arcped.2011.11.014

D. Miller, M. Adam, S. Aradhya, L. Biesecker, A. Brothman et al., Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies, The American Journal of Human Genetics, vol.86, issue.5, pp.749-64, 2010.
DOI : 10.1016/j.ajhg.2010.04.006

L. Rodríguez-revenga, E. Vallespín, I. Madrigal, M. Palomares, A. Mur et al., A parallel study of different array-CGH platforms in a set of Spanish patients with developmental delay and intellectual disability, Gene, vol.521, issue.1, pp.82-88, 2013.
DOI : 10.1016/j.gene.2013.02.043

E. Chouery, N. Choucair, A. Ghoch, J. , E. Sabbagh et al., Report on a Patient with a 12q24.31 Microdeletion Inherited from an Insulin-Dependent Diabetes Mellitus Father, Molecular Syndromology, vol.4, pp.136-178, 2013.
DOI : 10.1159/000346473

Y. Qiao, C. Tyson, M. Hrynchak, E. Lopez-rangel, J. Hildebrand et al., Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability, Clinical Genetics, vol.40, issue.2, pp.145-54, 2013.
DOI : 10.1111/j.1399-0004.2012.01860.x

M. Uddin, B. Thiruvahindrapuram, S. Walker, Z. Wang, P. Hu et al., A high-resolution copy-number variation resource for clinical and population genetics, Genetics in Medicine, vol.4, issue.9, 2014.
DOI : 10.1093/hmg/ddt669

M. Shoukier, N. Klein, B. Auber, J. Wickert, J. Schröder et al., Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?, Clinical Genetics, vol.46, issue.1, pp.53-65, 2013.
DOI : 10.1111/j.1399-0004.2012.01850.x

D. Mcmullan, M. Bonin, J. Hehir-kwa, B. De-vries, A. Dufke et al., Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: A multicenter study, Human Mutation, vol.42, issue.7, pp.1082-92, 2009.
DOI : 10.1002/humu.21015

J. Merritt-2nd, Y. Zou, S. Jalal, and V. Michels, Delineation of the cryptic 1qter deletion phenotype, American Journal of Medical Genetics Part A, vol.117, issue.6, pp.599-603, 2007.
DOI : 10.1002/ajmg.a.31611

C. Mankinen, J. Sears, and V. Alvarez, Terminal (1)(q43) long-arm deletion of chromosome no. 1 in a three-year-old female, Birth Defects Orig Artic Ser, vol.12, pp.131-137, 1976.

A. Caliebe, H. Kroes, J. Van-der-smagt, J. Martin-subero, H. Tönnies et al., Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440??Mb deletion in region 1q44 containing the HNRPU gene, European Journal of Medical Genetics, vol.53, issue.4, pp.179-85, 2010.
DOI : 10.1016/j.ejmg.2010.04.001

J. Carayol, G. Schellenberg, B. Dombroski, E. Genin, F. Rousseau et al., Autism risk assessment in siblings of affected children using sex-specific genetic scores, Molecular Autism, vol.2, issue.1, p.17, 2011.
DOI : 10.1086/429864
URL : https://hal.archives-ouvertes.fr/inserm-00641296

T. Barøy, D. Misceo, P. Strømme, A. Stray-pedersen, A. Holmgren et al., Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability, Orphanet Journal of Rare Diseases, vol.8, issue.1, p.3, 2013.
DOI : 10.1002/ajmg.b.31149

B. Ballif, J. Rosenfeld, R. Traylor, A. Theisen, P. Bader et al., High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44, Human Genetics, vol.117, issue.11, pp.145-56, 2012.
DOI : 10.1007/s00439-011-1073-y

K. Shimojima, N. Okamoto, Y. Suzuki, M. Saito, M. Mori et al., Subtelomeric deletions of 1q43q44 and severe brain impairment associated with delayed myelination, Journal of Human Genetics, vol.146, issue.9, pp.593-600, 2012.
DOI : 10.1038/jhg.2012.77

B. Van-bon, D. Koolen, R. Borgatti, A. Magee, S. Garcia-minaur et al., Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis, Journal of Medical Genetics, vol.45, issue.6, pp.346-54, 2008.
DOI : 10.1136/jmg.2007.055830

S. Yatsenko, M. Kruer, P. Bader, D. Corzo, J. Schuette et al., Identification of critical regions for clinical features of distal 10q deletion syndrome, Clinical Genetics, vol.10, issue.1, pp.54-62, 2009.
DOI : 10.1111/j.1399-0004.2008.01115.x

V. Mardo, E. Squibb, N. Braverman, J. Hoover-fong, C. Migeon et al., Molecular cytogenetic analysis of a de novo interstitial deletion of chromosome 10q (q25.3q26.13) in a male child with ambiguous genitalia: Evidence for a new critical region for genital development, American Journal of Medical Genetics Part A, vol.32, issue.17, pp.2293-2300, 2008.
DOI : 10.1002/ajmg.a.32316

N. Miller, M. Nance, E. Wohler, J. Hoover-fong, E. Lisi et al., Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: Evidence for HMX2 and HMX3 as candidate genes in hearing and vestibular function, American Journal of Medical Genetics Part A, vol.43, issue.5, pp.669-80, 2009.
DOI : 10.1002/ajmg.a.32705

R. Chitkara, A. Rajani, J. Bernstein, S. Shah, J. Hahn et al., Newborn with Prenatally Diagnosed Choroidal Fissure Cyst and Panhypopituitarism and Review of the Literature, American Journal of Perinatology Reports, vol.1, issue.02, pp.111-115, 2011.
DOI : 10.1055/s-0031-1293512

M. Irving, H. Hanson, P. Turnpenny, C. Brewer, C. Ogilvie et al., Deletion of the distal long arm of chromosome 10; is there a characteristic phenotype? A report of 15 de novo and familial cases, American Journal of Medical Genetics, vol.32, issue.2, pp.153-63, 2003.
DOI : 10.1002/ajmg.a.20220

Y. Chang, I. Chou, C. Wang, Z. Chin, H. Kuo et al., Chromosome 10q Deletion del (10)(q26.1q26.3) is Associated with Cataract, Pediatrics & Neonatology, vol.54, issue.2, pp.132-138, 2013.
DOI : 10.1016/j.pedneo.2012.10.010
URL : http://doi.org/10.1016/j.pedneo.2012.10.010

D. Rooney, K. Williams, D. Coleman, and A. Habel, A case of interstitial deletion of 10q25.2----q26.1., Journal of Medical Genetics, vol.26, issue.1, pp.58-60, 1989.
DOI : 10.1136/jmg.26.1.58

M. Fujiwara, T. Yoshimoto, Y. Morita, and M. Kamada, Interstitial deletion of chromosome 16q: 16q22 is critical for 16q- syndrome, American Journal of Medical Genetics, vol.14, issue.3, pp.561-565, 1992.
DOI : 10.1002/ajmg.1320430311

E. Natt, E. Westphal, S. Toth-fejel, R. Magenis, N. Buist et al., Inherited and de novo deletion of the tyrosine aminotransferase gene locus at 16q22.1 ? q22.3 in a patient with tyrosinemia type II, Human Genetics, vol.191, issue.4, pp.352-360, 1987.
DOI : 10.1007/BF00291426

A. Cooke, J. Tolmie, W. Darlington, E. Boyd, R. Thomson et al., Confirmation of a suspected 16q deletion in a dysmorphic child by flow karyotype analysis., Journal of Medical Genetics, vol.24, issue.2, pp.88-92, 1987.
DOI : 10.1136/jmg.24.2.88

E. Natt, R. Magenis, J. Zimmer, A. Mansouri, and G. Scherer, Regional assignment of the human loci for uvomorulin (UVO) and chymotrypsinogen B (CTRB) with the help of two overlapping deletions on the long arm of chromosome 16, Cytogenetic and Genome Research, vol.50, issue.2-3, pp.145-153, 1989.
DOI : 10.1159/000132745

S. Edelhoff, B. Maier, U. Trautmann, and R. Pfeiffer, Interstitial deletion of 16 (q13q22) in a newborn resulting from a paternal insertional translocation, Ann Génétique, vol.34, pp.85-94, 1991.

D. Callen, H. Eyre, S. Lane, Y. Shen, I. Hansmann et al., High resolution mapping of interstitial long arm deletions of chromosome 16: relationship to phenotype., Journal of Medical Genetics, vol.30, issue.10, pp.828-860, 1993.
DOI : 10.1136/jmg.30.10.828

A. Khan, R. Hyde, A. Dutra, P. Mohide, and P. Liu, Core binding factor beta (CBFB) haploinsufficiency due to an interstitial deletion at 16q21q22 resulting in delayed cranial ossification, cleft palate, congenital heart anomalies, and feeding difficulties but favorable outcome, American Journal of Medical Genetics Part A, vol.18, issue.21, pp.2349-54, 2006.
DOI : 10.1002/ajmg.a.31479

T. Yamamoto, Y. Dowa, H. Ueda, M. Kawataki, T. Asou et al., Tetralogy of Fallot associated with pulmonary atresia and major aortopulmonary collateral arteries in a patient with interstitial deletion of 16q21???q22.1, American Journal of Medical Genetics Part A, vol.62, issue.12, pp.1575-80, 2008.
DOI : 10.1002/ajmg.a.32204

Z. Stark, D. Bruno, H. Mountford, P. Lockhart, and D. Amor, De novo 325 kb microdeletion in chromosome band 10q25.3 including ATRNL1 in a boy with cognitive impairment, autism and dysmorphic features, European Journal of Medical Genetics, vol.53, issue.5, pp.337-346, 2010.
DOI : 10.1016/j.ejmg.2010.07.009

A. Haqq, P. René, T. Kishi, K. Khong, C. Lee et al., Characterization of a novel binding partner of the melanocortin-4 receptor: attractin-like protein, Biochemical Journal, vol.376, issue.3, pp.595-605, 2003.
DOI : 10.1042/bj20031241

Y. Fan, X. Ouyang, J. Peng, S. Sacharow, M. Tekin et al., Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray, Molecular Cytogenetics, vol.6, issue.1, p.38, 2013.
DOI : 10.1055/s-2000-15295

C. Rehder, K. David, B. Hirsch, H. Toriello, C. Wilson et al., American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing, Genetics in Medicine, vol.107, issue.2, pp.150-152, 2013.
DOI : 10.1002/jhrm.20051

R. Straub, C. Maclean, Y. Ma, B. Webb, M. Myakishev et al., Genome-wide scans of three independent sets of 90 Irish multiplex schizophrenia families and follow-up of selected regions in all families provides evidence for multiple susceptibility genes, Molecular Psychiatry, vol.7, issue.6, pp.542-59, 2002.
DOI : 10.1038/sj.mp.4001051

K. Buysse, D. Chiaie, B. , V. Coster, R. Loeys et al., Challenges for CNV interpretation in clinical molecular karyotyping: Lessons learned from a 1001 sample experience, European Journal of Medical Genetics, vol.52, issue.6, pp.398-403, 2009.
DOI : 10.1016/j.ejmg.2009.09.002