{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["24(6)"],"submitter":["Poirsier C"],"pubmed_abstract":["Although 22q11.2 deletion syndrome (22q11.2DS) is the most recurrent human microdeletion syndrome associated with a highly variable phenotype, little is known about the condition's true incidence and the phenotype at diagnosis. We performed a multicenter, retrospective analysis of postnatally diagnosed patients recruited by members of the Association des Cytogénéticiens de Langue Française (the French-Speaking Cytogeneticists Association). Clinical and cytogenetic data on 749 cases diagnosed between 1995 and 2013 were collected by 31 French cytogenetics laboratories. The most frequent reasons for referral of postnatally diagnosed cases were a congenital heart defect (CHD, 48.6%), facial dysmorphism (49.7%) and developmental delay (40.7%). Since 2007 (the year in which array comparative gen"],"journal":["European journal of human genetics : EJHG"],"pagination":["844-51"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4867458"],"repository":["biostudies-literature"],"pubmed_title":["A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH."],"pmcid":["PMC4867458"],"pubmed_authors":["Plessis G","Le Caignec C","Letard P","Bazin A","Catty M","Lallaoui H","Cartault F","Pebrel-Richard C","Basinko A","Kleinfinger P","de Blois MC","Harbuz R","Callier P","Prieur F","Vialard F","Amblard F","Poirsier C","Martin-Coignard D","Schluth-Bolard C","Yardin C","Kuentz P","Portnoi MF","Choiset A","Valduga M","Missirian C","Pipiras E","Le Meur N","Besseau-Ayasse J","Busa T","Receveur A","Doco-Fenzy M","Flori E","Lespinasse J","Landais E","Jimenez M","Toutain J"],"additional_accession":[]},"is_claimable":false,"name":"A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH.","description":"Although 22q11.2 deletion syndrome (22q11.2DS) is the most recurrent human microdeletion syndrome associated with a highly variable phenotype, little is known about the condition's true incidence and the phenotype at diagnosis. We performed a multicenter, retrospective analysis of postnatally diagnosed patients recruited by members of the Association des Cytogénéticiens de Langue Française (the French-Speaking Cytogeneticists Association). Clinical and cytogenetic data on 749 cases diagnosed between 1995 and 2013 were collected by 31 French cytogenetics laboratories. The most frequent reasons for referral of postnatally diagnosed cases were a congenital heart defect (CHD, 48.6%), facial dysmorphism (49.7%) and developmental delay (40.7%). Since 2007 (the year in which array comparative gen","dates":{"release":"2016-01-01T00:00:00Z","publication":"2016 Jun","modification":"2026-04-08T16:58:20.187Z","creation":"2019-03-27T02:13:40Z"},"accession":"S-EPMC4867458","cross_references":{"pubmed":["26508576"],"doi":["10.1038/ejhg.2015.219"]}}