How to Cite this Article: Mills KI, Anderson J, Levy PT, Cole FS, Silva JNA, Kulkarni S, Shinawi M. 2012. Duplication of 20p12.3 associated with familial Wolff–Parkinson–White syndrome. Am J Med Genet Part A 161A:137–144.
Article first published online: 13 DEC 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 1, pages 137–144, January 2013
How to Cite
Mills, K. I., Anderson, J., Levy, P. T., Cole, F. S., Silva, J. N.A., Kulkarni, S. and Shinawi, M. (2013), Duplication of 20p12.3 associated with familial Wolff–Parkinson–White syndrome. Am. J. Med. Genet., 161: 137–144. doi: 10.1002/ajmg.a.35701
All authors have no conflict of interest to declare.
- Issue published online: 22 DEC 2012
- Article first published online: 13 DEC 2012
- Manuscript Accepted: 1 SEP 2012
- Manuscript Received: 16 JAN 2012
- Wolff–Parkinson–White syndrome;
- non-immune hydrops;
- chromosomal microarray analysis;
Wolff–Parkinson–White (WPW) syndrome is caused by preexcitation of the ventricular myocardium via an accessory pathway which increases the risk for paroxysmal supraventricular tachycardia. The condition is often sporadic and of unknown etiology in the majority of cases. Autosomal dominant inheritance and association with congenital heart defects or ventricular hypertrophy were described. Microdeletions of 20p12.3 have been associated with WPW syndrome with either cognitive dysfunction or Alagille syndrome. Here, we describe the association of 20p12.3 duplication with WPW syndrome in a patient who presented with non-immune hydrops. Her paternal uncle carries the duplication and has attention-deficit hyperactivity disorder and electrocardiographic findings consistent with WPW. The 769 kb duplication was detected by the Affymetrix Whole Genome-Human SNP Array 6.0 and encompasses two genes and the first two exons of a third gene. We discuss the potential role of the genes in the duplicated region in the pathogenesis of WPW and possible neurobehavioral abnormalities. Our data provide additional support for a significant role of 20p12.3 chromosomal rearrangements in the etiology of WPW syndrome. © 2012 Wiley Periodicals, Inc.