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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.
Autores principales: | Vander Pluym, Juliana H, O’Sullivan, Julia, Andrew, Gail, Bolduc, Francois V |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Ltd
2015
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Materias: | |
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 |
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