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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: | , , , |
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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 |
| _version_ | 1782384620465029120 |
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| author | Vander Pluym, Juliana H O’Sullivan, Julia Andrew, Gail Bolduc, Francois V |
| author_facet | Vander Pluym, Juliana H O’Sullivan, Julia Andrew, Gail Bolduc, Francois V |
| author_sort | Vander Pluym, Juliana H |
| collection | PubMed |
| description | 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. |
| format | Online Article Text |
| id | pubmed-4527799 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2015 |
| publisher | John Wiley & Sons, Ltd |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-45277992015-08-13 Genomic characterization of chromosome 8 pericentric trisomy Vander Pluym, Juliana H O’Sullivan, Julia Andrew, Gail Bolduc, Francois V Clin Case Rep Case Reports 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. John Wiley & Sons, Ltd 2015-07 2015-05-20 /pmc/articles/PMC4527799/ /pubmed/26273445 http://dx.doi.org/10.1002/ccr3.234 Text en © 2015 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. http://creativecommons.org/licenses/by-nc/4.0/ This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes. |
| spellingShingle | Case Reports Vander Pluym, Juliana H O’Sullivan, Julia Andrew, Gail Bolduc, Francois V Genomic characterization of chromosome 8 pericentric trisomy |
| title | Genomic characterization of chromosome 8 pericentric trisomy |
| title_full | Genomic characterization of chromosome 8 pericentric trisomy |
| title_fullStr | Genomic characterization of chromosome 8 pericentric trisomy |
| title_full_unstemmed | Genomic characterization of chromosome 8 pericentric trisomy |
| title_short | Genomic characterization of chromosome 8 pericentric trisomy |
| title_sort | genomic characterization of chromosome 8 pericentric trisomy |
| topic | Case Reports |
| url | 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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