Article
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.
Nature genetics - 1 Mar 2010
Girirajan Santhosh, Rosenfeld Jill A, Cooper Gregory M, Antonacci Francesca, Siswara Priscillia, Itsara Andy, Vives Laura, Walsh Tom, McCarthy Shane E, Baker Carl, Mefford Heather C, Kidd Jeffrey M, Browning Sharon R, Browning Brian L, Dickel Diane E, Levy Deborah L, Ballif Blake C, Platky Kathryn, Farber Darren M, Gowans Gordon C, Wetherbee Jessica J, Asamoah Alexander, Weaver David D, Mark Paul R, Dickerson Jennifer, Garg Bhuwan P, Ellingwood Sara A, Smith Rosemarie, Banks Valerie C, Smith Wendy, McDonald Marie T, Hoo Joe J, French Beatrice N, Hudson Cindy, Johnson John P, Ozmore Jillian R, Moeschler John B, Surti Urvashi, Escobar Luis F, El-Khechen Dima, Gorski Jerome L, Kussmann Jennifer, Salbert Bonnie, Lacassie Yves, Biser Alisha, McDonald-McGinn Donna M, Zackai Elaine H, Deardorff Matthew A, Shaikh Tamim H, Haan Eric, Friend Kathryn L, Fichera Marco, Romano Corrado, Gécz Jozef, DeLisi Lynn E, Sebat Jonathan, King Mary-Claire, Shaffer Lisa G, Eichler Evan E
Abstract excerpt
We report the identification of a recurrent, 520-kb 16p12.1 microdeletion associated with childhood developmental delay. The microdeletion was detected in 20 of 11,873 cases compared with 2 of 8,540 controls (P = 0.0009, OR = 7.2) and replicated in a second series of 22 of 9,254 cases compared wi...
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