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Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction

BACKGROUND: Maternal uniparental disomy (UPD) of chromosome 7 (upd(7)mat) accounts for approximately 10% of patients with Silver-Russell syndrome (SRS). For upd(7)mat and trisomy 7, a significant number of mechanisms have been proposed to explain the postzygotic formation of these chromosomal compos...

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Detalles Bibliográficos
Autores principales: Chantot-Bastaraud, Sandra, Stratmann, Svea, Brioude, Frédéric, Begemann, Matthias, Elbracht, Miriam, Graul-Neumann, Luitgard, Harbison, Madeleine, Netchine, Irène, Eggermann, Thomas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5526280/
https://www.ncbi.nlm.nih.gov/pubmed/28770003
http://dx.doi.org/10.1186/s13039-017-0329-1