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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.

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Detalhes bibliográficos
Publicado no:Clin Case Rep
Main Authors: Vander Pluym, Juliana H, O’Sullivan, Julia, Andrew, Gail, Bolduc, Francois V
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley & Sons, Ltd 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4527799/
https://ncbi.nlm.nih.gov/pubmed/26273445
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.234
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