Analysis of Copy Number Variants on Chromosome 21 in Down Syndrome-Associated Congenital Heart Defects
Benjamin L. Rambo‐Martin; Jennifer G. Mulle; David J. Cutler; Lora Jh Bean; Tracie C. Rosser; Kenneth J. Dooley; L. Clifford; George Capone · 2017 · G3 Genes Genomes Genetics
WASTE classifies this as Negative / Null Result Report · AI classification, approximate
The study found no significant effect — useful as a negative control or null benchmark for your own design.
Abstract
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 return AVSD susceptibility loci back to disomy, and (2) individuals with DS carrying chromosome 21 genes spanned by microduplications are at greater risk for AVSD because these microdup
Abstract by Benjamin L. Rambo‐Martin; Jennifer G. Mulle; David J. Cutler; Lora Jh Bean; Tracie C. Rosser; Kenneth J. Dooley; L. Clifford; George Capone, G3 Genes Genomes Genetics (2017) — licensed CC BY 4.0.
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Metadata source: OpenAlex · DOI 10.1534/g3.117.300366