Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum

Deletions in region 22q11.2 usually occur between two low copy repeat regions (LCRs), which are preferred chromosome sites for rearrangements. Most of the deletions encompass the same ~3 or ~1.5 Mb region, with breakpoints at LCR A and D or at LCR A and B, respectively. We report on a patient with c...

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Hauptverfasser: Nogueira, Sintia Iole, Hacker, April M., Bellucco, Fernanda T.S., Christofolini, Denise M., Kulikowski, Leslie Domenici, Cernach, Mirlene C.S.P., Emanuel, Beverly S., Melaragno, Maria Isabel
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2008
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2810959/
https://ncbi.nlm.nih.gov/pubmed/18342595
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejmg.2008.02.001
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