Systematic reanalysis of partial trisomy 21 cases with or without Down syndrome suggests a small region on 21q22.13 as critical to the phenotype

A ‘Down Syndrome critical region’ (DSCR) sufficient to induce the most constant phenotypes of Down syndrome (DS) had been identified by studying partial (segmental) trisomy 21 (PT21) as an interval of 0.6–8.3 Mb within human chromosome 21 (Hsa21), although its existence was later questioned. We prop...

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Detalles Bibliográficos
Autores principales: Pelleri, Maria Chiara, Cicchini, Elena, Locatelli, Chiara, Vitale, Lorenza, Caracausi, Maria, Piovesan, Allison, Rocca, Alessandro, Poletti, Giulia, Seri, Marco, Strippoli, Pierluigi, Cocchi, Guido
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2016
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5181629/
https://www.ncbi.nlm.nih.gov/pubmed/27106104
http://dx.doi.org/10.1093/hmg/ddw116

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5181629/
https://www.ncbi.nlm.nih.gov/pubmed/27106104
http://dx.doi.org/10.1093/hmg/ddw116

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