Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

Shinawi, Marwan; Liu, P.; Hae L. Kang, Sung; Shen, Joseph; W. Belmont, John; A. Scott, Daryl; J. Probst, Frank; J Craigen, William; H. Graham, Brett; N. Pursley, Amber; Clark, Gary; Lee, Jennifer; B. Proud, Monica; Stocco, A.; L. Rodríguez, Diana; A. Kozel, Beth; Sparagana, Steven; Roeder, Elizabeth; G. McGrew, Susan; W. Kurczynski, Thaddeus; J Allison, Leslie; Amato, Stephen; Savage, Sarah; Patel, Ankita; Stankiewicz, Paweł; L. Beaudet, Arthur; Cheung, S.W.; R. Lupski, James

doi:10.1136/jmg.2009.073015

Public

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

Published in Journal of Medical Genetics • Nov 12, 2009

Authors:

Marwan Shinawi

P. Liu

Sung Hae L. Kang

Abstract

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) ...

Subject

Gene duplication

Speech delay

Microcephaly

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