title: Rare copy number variations in an adult with transposition of the great arteries emphasize the importance of updated genetic assessments in syndromic congenital cardiac disease.
authors.affiliation: Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.
authors.forename: Gregory
authors.initials: G
authors.lastname: Costain
authors.affiliation: The Toronto Congenital Cardiac Centre for Adults and Division of Cardiology in the Department of Medicine, University Health Network, Toronto, Ontario, Canada; The Labatt Family Heart Centre, The Hospital For Sick Children, Toronto, Ontario, Canada.
authors.forename: S Lucy
authors.initials: SL
authors.lastname: Roche
authors.affiliation: The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Molecular Genetics and McLaughlin Centre, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Stephen W
authors.initials: SW
authors.lastname: Scherer
authors.affiliation: The Toronto Congenital Cardiac Centre for Adults and Division of Cardiology in the Department of Medicine, University Health Network, Toronto, Ontario, Canada. Electronic address: candice.silversides@uhn.ca.
authors.forename: Candice K
authors.initials: CK
authors.lastname: Silversides
authors.affiliation: Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada; The Toronto Congenital Cardiac Centre for Adults and Division of Cardiology in the Department of Medicine, University Health Network, Toronto, Ontario, Canada; Department of Psychiatry, Toronto General Research Institute and The Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, University Health Network, Toronto, Ontario, Canada; Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada; Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, Canada. Electronic address: anne.bassett@utoronto.ca.
authors.forename: Anne S
authors.initials: AS
authors.lastname: Bassett
mesh_terms: D000328:Adult; D000067877:Autism Spectrum Disorder / Q000235:genetics*; D015415:Biomarkers / Q000378:metabolism; D020746:Calcium Channels, L-Type / Q000235:genetics*; D056915:DNA Copy Number Variations / Q000235:genetics*; D004828:Epilepsies, Partial / Q000188:drug therapy / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D017354:Point Mutation / Q000235:genetics; D009057:Stomatognathic Diseases / Q000235:genetics; D014188:Transposition of Great Vessels / Q000175:diagnosis / Q000235:genetics*
chemical_list: D015415:Biomarkers; C079146:CACNA1C protein, human; D020746:Calcium Channels, L-Type
keywords: 15q11.2; CACNA1C; Congenital heart disease; Copy number variation; Genetic testing; Timothy syndrome