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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...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 29141989
DOI: 10.1534/g3.117.300366
PMCID: PMC5765339

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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