Article
A copy number variation morbidity map of developmental delay.
Nature genetics - 14 Aug 2011
Cooper Gregory M, Coe Bradley P, Girirajan Santhosh, Rosenfeld Jill A, Vu Tiffany H, Baker Carl, Williams Charles, Stalker Heather, Hamid Rizwan, Hannig Vickie, Abdel-Hamid Hoda, Bader Patricia, McCracken Elizabeth, Niyazov Dmitriy, Leppig Kathleen, Thiese Heidi, Hummel Marybeth, Alexander Nora, Gorski Jerome, Kussmann Jennifer, Shashi Vandana, Johnson Krys, Rehder Catherine, Ballif Blake C, Shaffer Lisa G, Eichler Evan E
Abstract excerpt
To understand the genetic heterogeneity underlying developmental delay, we compared copy number variants (CNVs) in 15,767 children with intellectual disability and various congenital defects (cases) to CNVs in 8,329 unaffected adult controls. We estimate that ∼14.2% of disease in these children is caused by CNVs >400 kb. We observed a greater enrichment of CNVs in individuals with craniofacial anomalies and...
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