Apport des puces à ADN et nouveaux syndromes microdélétionnels

Bulletin de l'Académie Nationale de Médecine - Tập 202 - Trang 693-705 - 2018
Didier Lacombe1, Caroline Rooryck-Thambo1
1Service de Génétique Médicale,CHUBordeaux ; INSERM U1211, Laboratoire MaladiesRares : Génétique et Métabolisme (MRGM), Université de Bordeaux, 33076 Bordeaux, France.

Tài liệu tham khảo

Hochstenbach, 2011, Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research, Cytogenet Genome Res., 135, 174, 10.1159/000332928 Miller, 2010, Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies, Am J Hum Genet., 86, 749, 10.1016/j.ajhg.2010.04.006 Stankiewicz, 2007, Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation, Curr Opin Genet Dev., 17, 182, 10.1016/j.gde.2007.04.009 Hochstenbach, 2009, Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands, Eur J Med Genet., 52, 161, 10.1016/j.ejmg.2009.03.015 Itsara, 2009, Population analysis of large copy number variants and hotspots of human genetic disease, Am J Hum Genet., 84, 148, 10.1016/j.ajhg.2008.12.014 Rodriguez-Revenga, 2007, Structural variation in the human genome: the impact of copy number variants on clinical diagnosis, Genet Med., 9, 600, 10.1097/GIM.0b013e318149e1e3 Edelmann, 2009, Clinical utility of array CGH for the detection of chromosomal imbalances associated with mental retardation and multiple congenital anomalies, Ann N Y Acad Sci., 1151, 157, 10.1111/j.1749-6632.2008.03610.x Stranger, 2007, Relative impact of nucleotide and copy number variation on gene expression phenotypes, Science., 315, 848, 10.1126/science.1136678 Zhang, 2009, Copy number variation in human health, disease, and evolution, Annu Rev Genomics Hum Genet., 10, 451, 10.1146/annurev.genom.9.081307.164217 Craddock, 2010, Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls, Nature., 464, 713, 10.1038/nature08979 Iafrate, 2004, Detection of large-scale variation in the human genome, Nat Genet., 36, 949, 10.1038/ng1416 Sebat, 2004, Large-scale copy number polymorphism in the human genome, Science., 305, 525, 10.1126/science.1098918 Redon, 2006, Global variation in copy number in the human genome, Nature., 444, 444, 10.1038/nature05329 McCarroll, 2008, Integrated detection and population-genetic analysis of SNPs and copy number variation, Nat Genet., 40, 1166, 10.1038/ng.238 Perry, 2008, The fine-scale and complex architecture of human copy-number variation, Am J Hum Genet., 82, 685, 10.1016/j.ajhg.2007.12.010 Conrad, 2010, Origins and functional impact of copy number variation in the human genome, Nature., 464, 704, 10.1038/nature08516 Derti, 2006, Mammalian ultraconserved elements are strongly depleted among segmental duplications and copy number variants, Nat Genet., 38, 1216, 10.1038/ng1888 Ambros, 2004, The functions of animal microRNAs, Nature., 431, 350, 10.1038/nature02871 Eichler, 2004, An assessment of the sequence gaps: unfinished business in a finished human genome, Nat Rev Genet., 5, 345, 10.1038/nrg1322 Jordan, 2015, 1p36 deletion syndrome: an update, Appl Clin Genet., 8, 189 Bahi-Buisson, 2008, Spectrum of epilepsy in terminal 1p36 deletion syndrome, Epilepsia., 49, 509, 10.1111/j.1528-1167.2007.01424.x Leroy, 2013, The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients, Eur J Hum Genet., 21, 602, 10.1038/ejhg.2012.230 Goizet, 2000, Case with autistic syndrome and chromosome 22q13.3 deletion detected by FISH, Am J Med Genet., 96, 839, 10.1002/1096-8628(20001204)96:6<839::AID-AJMG29>3.0.CO;2-R Willemsen, 2012, Update on Kleefstra Syndrome. Mol Syndromol., 3, 202