Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications

Genomic instability is a feature of the human Xp22.31 region wherein deletions are associated with X-linked ichthyosis, mental retardation and attention deficit hyperactivity disorder. A putative homologous recombination hotspot motif is enriched in low copy repeats that mediate recurrent deletion a...

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Detalhes bibliográficos
Main Authors: Liu, Pengfei, Erez, Ayelet, Sreenath Nagamani, Sandesh C., Bi, Weimin, Carvalho, Claudia M. B., Simmons, Alexandra D., Wiszniewska, Joanna, Fang, Ping, Eng, Patricia A., Cooper, M. Lance, Sutton, V. Reid, Roeder, Elizabeth R., Bodensteiner, John B., Delgado, Mauricio R., Prakash, Siddharth K., Belmont, John W., Stankiewicz, Pawel, Berg, Jonathan S., Shinawi, Marwan, Patel, Ankita, Cheung, Sau Wai, Lupski, James R.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2011
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3080608/
https://ncbi.nlm.nih.gov/pubmed/21355048
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddr078
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