| Author | Weise, Anja | |
| Author | Mrasek, Kristin | |
| Author | Klein, Elisabeth | |
| Author | Mulatinho, Milene | |
| Author | Llerena Junior, Juan Clinton | |
| Author | Hardekopf, David | |
| Author | Pekova, Sona | |
| Author | Bhatt, Samarth | |
| Author | Kosyakova, Nadezda | |
| Author | Liehr, Thomas | |
| Access date | 2014-12-16T17:45:44Z | |
| Available date | 2014-12-16T17:45:44Z | |
| Document date | 2012 | |
| Citation | WEISE, Anja. et al. Microdeletion and microduplication syndromes. J. histochem. cytochem., Baltimore, v. 60, n. 5, p. 346– 358, 2012. | pt_BR |
| URI | https://www.arca.fiocruz.br/handle/icict/9187 | |
| Language | eng | pt_BR |
| Publisher | Histochemical Society | pt_BR |
| Rights | restricted access | |
| Title | Microdeletion and microduplication syndromes | pt_BR |
| Type | Article | |
| DOI | 10.1369/0022155412440001 | |
| Abstract | The widespread use of whole genome analysis based on array comparative genomic hybridization in diagnostics and research
has led to a continuously growing number of microdeletion and microduplication syndromes (MMSs) connected to certain
phenotypes. These MMSs also include increasing instances in which the critical region can be reciprocally deleted or
duplicated. This review catalogues the currently known MMSs and the corresponding critical regions including phenotypic
consequences. Besides the pathogenic pathways leading to such rearrangements, the different detection methods and their
limitations are discussed. Finally, the databases available for distinguishing between reported benign or pathogenic copy
number alterations are highlighted. Overall, a review of MMSs that previously were also denoted “genomic disorders” or
“contiguous gene syndromes” is given. | pt_BR |
| Affilliation | Institute of Human Genetics. Friedrich Schiller University. Jena University Hospital. Jena, Germany. | pt_BR |
| Affilliation | Institute of Human Genetics. Friedrich Schiller University. Jena University Hospital. Jena, Germany. | pt_BR |
| Affilliation | Institute of Human Genetics. Friedrich Schiller University. Jena University Hospital. Jena, Germany. | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Departamento de Genética. Rio de Janeiro, RJ, Brasil. | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Departamento de Genética. Rio de Janeiro, RJ, Brasil. | pt_BR |
| Affilliation | Chambon Laboratory for Molecular Diagnostics. Synlab Czech Laboratory Group. Prague, Czech Republic. | pt_BR |
| Affilliation | Chambon Laboratory for Molecular Diagnostics. Synlab Czech Laboratory Group. Prague, Czech Republic. | pt_BR |
| Affilliation | Institute of Human Genetics. Friedrich Schiller University. Jena University Hospital. Jena, Germany. | pt_BR |
| Affilliation | Institute of Human Genetics. Friedrich Schiller University. Jena University Hospital. Jena, Germany. | pt_BR |
| Affilliation | Institute of Human Genetics. Friedrich Schiller University. Jena University Hospital. Jena, Germany. | pt_BR |
| Subject | Microdeletion Syndrome | pt_BR |
| Subject | Microduplication Syndrome | pt_BR |
| Subject | Contiguous Gene Syndromes | pt_BR |
| Subject | Non-Allelic Homologues Recombination | pt_BR |
| Subject | Fluorescence in Situ Hybridization | pt_BR |
| Subject | Multiplex Ligation-Dependent Probe Amplification | pt_BR |
| Subject | Quantitative Polymerase Chain Reaction | pt_BR |
| DeCS | Síndrome | pt_BR |
| DeCS | Genes | pt_BR |
| DeCS | Recombinação Homóloga | pt_BR |
| DeCS | Ligadura | pt_BR |
| DeCS | Reação em Cadeia da Polimerase | pt_BR |
