Recurrent Deletions and Reciprocal Duplications of 10q11.21q11.23 Including CHAT and SLC18A3 are Likely Mediated by Complex Low-Copy Repeats

We report 24 unrelated individuals with deletions and 17 additional cases with duplications at 10q11.21q21.1 identified by chromosomal microarray analysis. The rearrangements range in size from 0.3 to 12 Mb. Nineteen of the deletions and eight duplications are flanked by large, directly oriented seg...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Stankiewicz, Paweł, Kulkarni, Shashikant, Dharmadhikari, Avinash V., Sampath, Srirangan, Bhatt, Samarth S., Shaikh, Tamim H., Xia, Zhilian, Pursley, Amber N., Cooper, M. Lance, Shinawi, Marwan, Paciorkowski, Alex R., Grange, Dorothy K., Noetzel, Michael J., Saunders, Scott, Simons, Paul, Summar, Marshall, Lee, Brendan, Scaglia, Fernando, Fellmann, Florence, Martinet, Danielle, Beckmann, Jacques S., Asamoah, Alexander, Platky, Kathryn, Sparks, Susan, Martin, Ann S., Madan-Khetarpal, Suneeta, Hoover, Jacqueline, Medne, Livija, Bonnemann, Carsten G., Moeschler, John B., Vallee, Stephanie E., Parikh, Sumit, Irwin, Polly, Dalzell, Victoria P., Smith, Wendy E., Banks, Valerie C., Flannery, David B., Lovell, Carolyn M., Bellus, Gary A., Golden-Grant, Kathryn, Gorski, Jerome L., Kussmann, Jennifer L., McGregor, Tracy L., Hamid, Rizwan, Pfotenhauer, Jean, Ballif, Blake C., Shaw, Chad A., Kang, Sung-Hae L., Bacino, Carlos A., Patel, Ankita, Rosenfeld, Jill A., Cheung, Sau Wai, Shaffer, Lisa G.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: 2011
विषय:
Article
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC3655525/
https://ncbi.nlm.nih.gov/pubmed/21948486
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21614
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