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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2016
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5122884/
https://www.ncbi.nlm.nih.gov/pubmed/27933089
http://dx.doi.org/10.3389/fgene.2016.00205

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5122884/
https://www.ncbi.nlm.nih.gov/pubmed/27933089
http://dx.doi.org/10.3389/fgene.2016.00205

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