Publication
Molecular Characterization of a Rare Analphoid Supernumerary Marker Chromosome Derived from 7q35 → qter: A Case Report
| dc.contributor.author | Marques, B | |
| dc.contributor.author | Ferreira, C | |
| dc.contributor.author | Brito, F | |
| dc.contributor.author | Pedro, S | |
| dc.contributor.author | Alves, C | |
| dc.contributor.author | Lourenço, T | |
| dc.contributor.author | Amorim, M | |
| dc.contributor.author | Correia, H | |
| dc.date.accessioned | 2017-01-11T12:14:43Z | |
| dc.date.available | 2017-01-11T12:14:43Z | |
| dc.date.issued | 2016 | |
| dc.description.abstract | Analphoid supernumerary marker chromosomes (aSMC) constitute one of the smallest groups of SMC, and are characterized by a centromeric constriction but no detectable alpha-satellite DNA. These marker chromosomes cannot be properly identified by conventional banding techniques alone, and molecular cytogenetic methods are necessary for a detailed characterization. Analphoid SMC derived from chromosome 7 are extremely rare, with only five cases reported so far. | pt_PT |
| dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.citation | Mol Cytogenet. 2016 Nov 25;9:87 | pt_PT |
| dc.identifier.doi | 10.1186/s13039-016-0295-z | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.17/2610 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.publisher | BioMed Central | pt_PT |
| dc.subject | 7q duplication | pt_PT |
| dc.subject | Analphoid supernumerary marker chromosome | pt_PT |
| dc.subject | Chromosome 7 | pt_PT |
| dc.subject | Partial 7q tetrasomy | pt_PT |
| dc.subject | Case Report | pt_PT |
| dc.subject | HDE GEN | pt_PT |
| dc.title | Molecular Characterization of a Rare Analphoid Supernumerary Marker Chromosome Derived from 7q35 → qter: A Case Report | pt_PT |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.issue | 1 | pt_PT |
| oaire.citation.startPage | 87 | pt_PT |
| oaire.citation.volume | 9 | pt_PT |
| rcaap.rights | openAccess | pt_PT |
| rcaap.type | article | pt_PT |