A de novo 2.78-Mb duplication on chromosome 21q22.11 implicates candidate genes in the partial trisomy 21 phenotype

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Down syndrome (DS) is the most common genetic cause of intellectual disability (ID) and in the majority of cases is the result of complete trisomy 21. The hypothesis that the characteristic DS clinical features are due to a single DS critical region (DSCR) at distal chromosome 21q has been refuted b...

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Detalles Bibliográficos
Autores principales: Weisfeld-Adams, James D, Tkachuk, Amanda K, Maclean, Kenneth N, Meeks, Naomi L, Scott, Stuart A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5102301/
https://www.ncbi.nlm.nih.gov/pubmed/27840696
http://dx.doi.org/10.1038/npjgenmed.2016.3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5102301/
https://www.ncbi.nlm.nih.gov/pubmed/27840696
http://dx.doi.org/10.1038/npjgenmed.2016.3

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