Cargando…
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...
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 |
Ejemplares similares
-
The maternal uniparental disomy of chromosome 6 (upd(6)mat) “phenotype”: result of placental trisomy 6 mosaicism?
por: Eggermann, Thomas, et al.
Publicado: (2017) -
A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome
por: Azzi, Salah, et al.
Publicado: (2015) -
Roles of Type 1 Insulin-Like Growth Factor (IGF) Receptor and IGF-II in Growth Regulation: Evidence From a Patient Carrying Both an 11p Paternal Duplication and 15q Deletion
por: Giabicani, Eloïse, et al.
Publicado: (2019) -
Autonomous trisomic rescue of Down syndrome cells
por: Inoue, Momoko, et al.
Publicado: (2019) -
Mosaic UPD(7q)mat in a patient with silver Russell syndrome
por: Su, Jiasun, et al.
Publicado: (2017)