A Rare Inherited 15q11.2-q13.1 Interstitial Duplication with Maternal Somatic Mosaicism, Renal Carcinoma, and Autism

Chromosome 15q11-q13.1 duplication is a common copy number variant associated with autism spectrum disorder (ASD). Most cases are de novo, maternal in origin and fully penetrant for ASD. Here, we describe a unique family with an interstitial 15q11.2-q13.1 maternal duplication and the presence of som...

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Detaylı Bibliyografya
Yayımlandı:Front Genet
Asıl Yazarlar: Urraca, Nora, Potter, Brian, Hundley, Rachel, Pivnick, Eniko K., McVicar, Kathryn, Thibert, Ronald L., Ledbetter, Christopher, Chamberlain, Reed, Miravalle, Leticia, Sirois, Carissa L., Chamberlain, Stormy, Reiter, Lawrence T.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Frontiers Media S.A. 2016
Konular:
Genetics
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5122884/
https://ncbi.nlm.nih.gov/pubmed/27933089
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2016.00205
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