Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls

Recurrent rearrangements of chromosome 1q21.1 that occur via non-allelic homologous recombination have been associated with variable phenotypes exhibiting incomplete penetrance, including congenital heart disease (CHD). However, the gene or genes within the ∼1 Mb critical region responsible for each...

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Veröffentlicht in:	Human molecular genetics 2012-04, Vol.21 (7), p.1513-1520
Hauptverfasser:	Soemedi, Rachel, Topf, Ana, Wilson, Ian J., Darlay, Rebecca, Rahman, Thahira, Glen, Elise, Hall, Darroch, Huang, Ni, Bentham, Jamie, Bhattacharya, Shoumo, Cosgrove, Catherine, Brook, J. David, Granados-Riveron, Javier, Setchfield, Kerry, Bu'Lock, Frances, Thornborough, Chris, Devriendt, Koenraad, Breckpot, Jeroen, Hofbeck, Michael, Lathrop, Mark, Rauch, Anita, Blue, Gillian M., Winlaw, David S., Hurles, Matthew, Santibanez-Koref, Mauro, Cordell, Heather J., Goodship, Judith A., Keavney, Bernard D.
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Cardiology. Vascular system Chromosome Deletion Chromosome Duplication Chromosomes, Human, Pair 1 Congenital heart diseases. Malformations of the aorta, pulmonary vessels and vena cava Connexins - genetics Fundamental and applied biological sciences. Psychology Gap Junction alpha-5 Protein Gene Duplication Genetics of eukaryotes. Biological and molecular evolution Heart Heart Defects, Congenital - genetics Humans Medical sciences Molecular and cellular biology Phenotype Tetralogy of Fallot - genetics
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