Identification of familial and de novo microduplications of 22q11.21–q11.23 distal to the 22q11.21 microdeletion syndrome region

Deletions of the 22q11.2 region distal to the 22q11.21 microdeletion syndrome region have recently been described in individuals with mental retardation and congenital anomalies. Because these deletions are mediated by low-copy repeats (LCRs), located distal to the 22q11.21 DiGeorge/velocardiofacial...

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Hauptverfasser: Coppinger, Justine, McDonald-McGinn, Donna, Zackai, Elaine, Shane, Kate, Atkin, Joan F., Asamoah, Alexander, Leland, Robert, Weaver, David D., Lansky-Shafer, Susan, Schmidt, Karen, Feldman, Heidi, Cohen, William, Phalin, Judy, Powell, Berkley, Ballif, Blake C., Theisen, Aaron, Geiger, Elizabeth, Haldeman-Englert, Chad, Shaikh, Tamim H., Saitta, Sulagna, Bejjani, Bassem A., Shaffer, Lisa G.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2009
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Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2664143/
https://ncbi.nlm.nih.gov/pubmed/19193630
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddp042
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