Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes.

@article{Riley2015RecurrentDA,
  title={Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes.},
  author={Kacie N. Riley and Lisa M. Catalano and John A. Bernat and Stacie D. Adams and Donna M. Martin and Seema R. Lalani and Ankita Patel and Rachel D Burnside and Jeffrey W. Innis and M Katharine Rudd},
  journal={American journal of medical genetics. Part A},
  year={2015},
  volume={167A 11},
  pages={2664-73}
}
Copy number variation (CNV) in the long arm of chromosome 2 has been implicated in developmental delay (DD), intellectual disability (ID), autism spectrum disorder (ASD), congenital anomalies, and psychiatric disorders. Here we describe 14 new subjects with recurrent deletions and duplications of chromosome 2q11.2, 2q13, and 2q11.2-2q13. Though diverse phenotypes are associated with these CNVs, some common features have emerged. Subjects with 2q11.2 deletions often exhibit DD, speech delay, and… CONTINUE READING