{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["42(2)"],"submitter":["Le Caignec C"],"pubmed_abstract":["<h4>Background</h4>Malformations are a major cause of morbidity and mortality in full term infants and genomic imbalances are a significant component of their aetiology. However, the causes of defects in many patients with multiple congenital malformations remain unexplained despite thorough clinical examination and laboratory investigations.<h4>Methods</h4>We used a commercially available array based comparative genomic hybridisation method (array CGH), able to screen all subtelomeric regions, main microdeletion syndromes, and 201 other regions covering the genome, to detect submicroscopic chromosomal imbalances in 49 fetuses with three or more significant anomalies and normal karyotype.<h4>Results</h4>Array CGH identified eight genomic rearrangements (16.3%), all confirmed by quantitativ"],"journal":["Journal of medical genetics"],"pagination":["121-8"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC1735978"],"repository":["biostudies-literature"],"pubmed_title":["Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations."],"pmcid":["PMC1735978"],"pubmed_authors":["Joubert M","Le Caignec C","David A","Saugier-Veber P","Rival JM","Jacquemont S","Boceno M","Frebourg T"],"additional_accession":[]},"is_claimable":false,"name":"Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations.","description":"<h4>Background</h4>Malformations are a major cause of morbidity and mortality in full term infants and genomic imbalances are a significant component of their aetiology. However, the causes of defects in many patients with multiple congenital malformations remain unexplained despite thorough clinical examination and laboratory investigations.<h4>Methods</h4>We used a commercially available array based comparative genomic hybridisation method (array CGH), able to screen all subtelomeric regions, main microdeletion syndromes, and 201 other regions covering the genome, to detect submicroscopic chromosomal imbalances in 49 fetuses with three or more significant anomalies and normal karyotype.<h4>Results</h4>Array CGH identified eight genomic rearrangements (16.3%), all confirmed by quantitativ","dates":{"release":"2005-01-01T00:00:00Z","publication":"2005 Feb","modification":"2025-04-18T15:16:02.897Z","creation":"2019-03-27T01:46:34Z"},"accession":"S-EPMC1735978","cross_references":{"pubmed":["15689449"],"doi":["10.1136/jmg.2004.025478"]}}