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 soma...

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Detalhes bibliográficos

Principais autores:	Nora Urraca, Brian Potter, Rachel Hundley, Eniko Pivnick, Kathryn McVicar, Ronald Thibert, Chistopher Ledbetter, Reed Chamberlain, Leticia Miravalle, Carissa L. Sirois, Stormy J. Chamberlain, Lawrence T. Reiter
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Frontiers Media S.A. 2016-11-01
coleção:	Frontiers in Genetics
Assuntos:	Stem Cells renal carcinoma Autism spectrum disorders (ASD) Somatic Mosaicism 15q duplication growth competition assay
Acesso em linha:	http://journal.frontiersin.org/Journal/10.3389/fgene.2016.00205/full
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