Genomic characterization of chromosome 8 pericentric trisomy

We present a patient with trisomy 8p11.21q11.21 associated with language, gross motor, fine motor, and cognitive delay. Furthermore, using array-based comparative genomic hybridization, we identify the specific genes duplicated in our patient.

Detalles Bibliográficos
Autores principales: Vander Pluym, Juliana H, O’Sullivan, Julia, Andrew, Gail, Bolduc, Francois V
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2015
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4527799/
https://www.ncbi.nlm.nih.gov/pubmed/26273445
http://dx.doi.org/10.1002/ccr3.234

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4527799/
https://www.ncbi.nlm.nih.gov/pubmed/26273445
http://dx.doi.org/10.1002/ccr3.234

Ejemplares similares