Article
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.
Journal of medical genetics - 1 May 2010
Shinawi Marwan, Liu Pengfei, Kang Sung-Hae L, Shen Joseph, Belmont John W, Scott Daryl A, Probst Frank J, Craigen William J, Graham Brett H, Pursley Amber, Clark Gary, Lee Jennifer, Proud Monica, Stocco Amber, Rodriguez Diana L, Kozel Beth A, Sparagana Steven, Roeder Elizabeth R, McGrew Susan G, Kurczynski Thaddeus W, Allison Leslie J, Amato Stephen, Savage Sarah, Patel Ankita, Stankiewicz Pawel, Beaudet Arthur L, Cheung Sau Wai, Lupski James R
Abstract excerpt
BACKGROUND: Deletion and the reciprocal duplication in 16p11.2 were recently associated with autism and developmental delay. METHOD: We indentified 27 deletions and 18 duplications of 16p11.2 were identified in 0.6% of all samples submitted for clinical array-CGH (comparative genomic hybridisation) analysis. Detailed molecular and phenotypic characterisations were performed on 17 deletion subjects and ten...
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