Article
Analysis of Copy Number Variants on Chromosome 21 in Down Syndrome-Associated Congenital Heart Defects.
G3 (Bethesda, Md.) - 4 Jan 2018
Rambo-Martin Benjamin L, Mulle Jennifer G, Cutler David J, Bean Lora J H, Rosser Tracie C, Dooley Kenneth J, Cua Clifford, Capone George, Maslen Cheryl L, Reeves Roger H, Sherman Stephanie L, Zwick Michael E
Abstract excerpt
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 carrying chromosome 21 copy number variants (CNVs) that interrupt exons may be protected from AVSD, because these CNVs...
Topics
- Black People
- Chromosomes, Human, Pair 21
- DNA Copy Number Variations
- Down Syndrome
- Female
- Genetic Loci
- Heart Septal Defects
- Humans
- Male
- Microarray Analysis