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Could a chimeric condition be responsible for unexpected genetic syndromes? The role of the single nucleotide polymorphism‐array analysis
In this paper, is reported the identification of two chimeric patients, a rare finding if sexual abnormalities are absent. However, their chimeric condition is responsible at least for the Silver–Russell phenotype observed in one of the two patients. By single nucleotide polymorphism‐array analyses,...
| Autores principales: | , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418439/ https://www.ncbi.nlm.nih.gov/pubmed/30628197 http://dx.doi.org/10.1002/mgg3.546 |
| _version_ | 1783403737360891904 |
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| author | Bottega, Roberta Cappellani, Stefania Fabretto, Antonella Spinelli, Alessandro Mauro Severini, Giovanni Maria Aloisio, Michelangelo Faleschini, Michela Athanasakis, Emmanouil Bruno, Irene Faletra, Flavio Pecile, Vanna |
| author_facet | Bottega, Roberta Cappellani, Stefania Fabretto, Antonella Spinelli, Alessandro Mauro Severini, Giovanni Maria Aloisio, Michelangelo Faleschini, Michela Athanasakis, Emmanouil Bruno, Irene Faletra, Flavio Pecile, Vanna |
| author_sort | Bottega, Roberta |
| collection | PubMed |
| description | In this paper, is reported the identification of two chimeric patients, a rare finding if sexual abnormalities are absent. However, their chimeric condition is responsible at least for the Silver–Russell phenotype observed in one of the two patients. By single nucleotide polymorphism‐array analyses, it was possible to clearly define the mechanism responsible for this unusual finding, underlining the importance of this technique in bringing out the perhaps submerged world of chimeras.[Image: see text] |
| format | Online Article Text |
| id | pubmed-6418439 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2019 |
| publisher | John Wiley and Sons Inc. |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-64184392019-03-27 Could a chimeric condition be responsible for unexpected genetic syndromes? The role of the single nucleotide polymorphism‐array analysis Bottega, Roberta Cappellani, Stefania Fabretto, Antonella Spinelli, Alessandro Mauro Severini, Giovanni Maria Aloisio, Michelangelo Faleschini, Michela Athanasakis, Emmanouil Bruno, Irene Faletra, Flavio Pecile, Vanna Mol Genet Genomic Med Letter to the Editor In this paper, is reported the identification of two chimeric patients, a rare finding if sexual abnormalities are absent. However, their chimeric condition is responsible at least for the Silver–Russell phenotype observed in one of the two patients. By single nucleotide polymorphism‐array analyses, it was possible to clearly define the mechanism responsible for this unusual finding, underlining the importance of this technique in bringing out the perhaps submerged world of chimeras.[Image: see text] John Wiley and Sons Inc. 2019-01-09 /pmc/articles/PMC6418439/ /pubmed/30628197 http://dx.doi.org/10.1002/mgg3.546 Text en © 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
| spellingShingle | Letter to the Editor Bottega, Roberta Cappellani, Stefania Fabretto, Antonella Spinelli, Alessandro Mauro Severini, Giovanni Maria Aloisio, Michelangelo Faleschini, Michela Athanasakis, Emmanouil Bruno, Irene Faletra, Flavio Pecile, Vanna Could a chimeric condition be responsible for unexpected genetic syndromes? The role of the single nucleotide polymorphism‐array analysis |
| title | Could a chimeric condition be responsible for unexpected genetic syndromes? The role of the single nucleotide polymorphism‐array analysis |
| title_full | Could a chimeric condition be responsible for unexpected genetic syndromes? The role of the single nucleotide polymorphism‐array analysis |
| title_fullStr | Could a chimeric condition be responsible for unexpected genetic syndromes? The role of the single nucleotide polymorphism‐array analysis |
| title_full_unstemmed | Could a chimeric condition be responsible for unexpected genetic syndromes? The role of the single nucleotide polymorphism‐array analysis |
| title_short | Could a chimeric condition be responsible for unexpected genetic syndromes? The role of the single nucleotide polymorphism‐array analysis |
| title_sort | could a chimeric condition be responsible for unexpected genetic syndromes? the role of the single nucleotide polymorphism‐array analysis |
| topic | Letter to the Editor |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418439/ https://www.ncbi.nlm.nih.gov/pubmed/30628197 http://dx.doi.org/10.1002/mgg3.546 |
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