Please use this identifier to cite or link to this item:
https://hdl.handle.net/10316/110205
DC Field | Value | Language |
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dc.contributor.author | Ferreira, Susana I. | - |
dc.contributor.author | Matoso, Eunice | - |
dc.contributor.author | Pinto, Marta | - |
dc.contributor.author | Almeida, Joana | - |
dc.contributor.author | Liehr, Thomas | - |
dc.contributor.author | Melo, Joana B. | - |
dc.contributor.author | Carreira, Isabel M. | - |
dc.date.accessioned | 2023-11-17T11:24:55Z | - |
dc.date.available | 2023-11-17T11:24:55Z | - |
dc.date.issued | 2010-07-20 | - |
dc.identifier.issn | 1755-8166 | pt |
dc.identifier.uri | https://hdl.handle.net/10316/110205 | - |
dc.description.abstract | Background: Premature ovarian failure (POF) has repeatedly been associated to X-chromosome deletions. FMR1 gene premutation allele’s carrier women have an increased risk for POF. We intent to determine the cause of POF in a 29 year old female, evaluating both of these situations. Methods: Concomitant analysis of FMR1 gene CGG repeat number and karyotype revealed an X-chromosome terminal deletion. Fluorescence in situ further characterized the breakpoint. A methylation assay for FMR1 gene allowed to determine its methylation status, and hence, the methylation status of the normal X-chromosome. Results: We report a POF patient with a 46,X,del(X)(q26) karyotype and with skewed X-chromosome inactivation of the structural abnormal X-chromosome. Conclusions: Despite the hemizygosity of FMR1 gene, the patient does not present Fragile X syndrome features, since the normal X-chromosome is not subject to methylation. The described deletion supports the hypothesis that haploinsufficiency of X-linked genes can be on the basis of POF, and special attention should be paid to Xlinked genes in region Xq28 since they escape inactivation and might have a role in this disorder. A full clinical and cytogenetic characterization of all POF cases is important to highlight a pattern and help to understand which genes are crucial for normal ovarian development. | pt |
dc.language.iso | eng | pt |
dc.publisher | Springer Nature | pt |
dc.rights | openAccess | pt |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | pt |
dc.title | X-chromosome terminal deletion in a female with premature ovarian failure: Haploinsufficiency of X-linked genes as a possible explanation | pt |
dc.type | article | - |
degois.publication.firstPage | 14 | pt |
degois.publication.issue | 1 | pt |
degois.publication.title | Molecular Cytogenetics | pt |
dc.peerreviewed | yes | pt |
dc.identifier.doi | 10.1186/1755-8166-3-14 | pt |
degois.publication.volume | 3 | pt |
dc.date.embargo | 2010-07-20 | * |
uc.date.periodoEmbargo | 0 | pt |
item.grantfulltext | open | - |
item.cerifentitytype | Publications | - |
item.languageiso639-1 | en | - |
item.openairetype | article | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.fulltext | Com Texto completo | - |
crisitem.author.researchunit | CNC - Center for Neuroscience and Cell Biology | - |
crisitem.author.orcid | 0000-0002-2347-7624 | - |
crisitem.author.orcid | 0000-0001-6842-1707 | - |
Appears in Collections: | I&D CNC - Artigos em Revistas Internacionais FMUC Medicina - Artigos em Revistas Internacionais |
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Xchromosome-terminal-deletion-in-a-female-with-premature-ovarian-failure-Haploinsufficiency-of-Xlinked-genes-as-a-possible-explanationMolecular-Cytogenetics.pdf | 1.56 MB | Adobe PDF | View/Open |
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This item is licensed under a Creative Commons License