Analysis of Copy Number Variants on Chromosome 21 in Down Syndrome-Associated Congenital Heart Defects

Analysis of Copy Number Variants on Chromosome 21 in Down Syndrome-Associated Congenital Heart Defects

One in five people with Down syndrome (DS) are born with an atrioventricular septal defect (AVSD), an incidence 2000 times higher than in the euploid population. The genetic loci that contribute to this risk are poorly understood. In this study, we tested two hypotheses: (1) individuals with DS carr...

Full description

Bibliographic Details
Main Authors: Benjamin L. Rambo-Martin, Jennifer G. Mulle, David J. Cutler, Lora J. H. Bean, Tracie C. Rosser, Kenneth J. Dooley, Clifford Cua, George Capone, Cheryl L. Maslen, Roger H. Reeves, Stephanie L. Sherman, Michael E. Zwick
Format: Article
Language:English
Published: Oxford University Press 2018-01-01
Series:G3: Genes, Genomes, Genetics
Subjects:
Down syndrome
congenital heart defects
copy number variation
Online Access:http://g3journal.org/lookup/doi/10.1534/g3.117.300366

Internet

http://g3journal.org/lookup/doi/10.1534/g3.117.300366

Similar Items