Publication
Partial trisomy of the pericentromeric region of chromosome 5 in a girl with Binder phenotype
| dc.contributor.author | Hadzsiev, Kinga | |
| dc.contributor.author | Dávid, Dezső | |
| dc.contributor.author | Szabó, Gyula | |
| dc.contributor.author | Czakó, Márta | |
| dc.contributor.author | Melegh, Béla | |
| dc.contributor.author | Kosztolányi, György | |
| dc.date.accessioned | 2015-02-17T11:29:21Z | |
| dc.date.available | 2015-02-17T11:29:21Z | |
| dc.date.issued | 2014-12-20 | |
| dc.description.abstract | The patient reported here displayed the most characteristic features of Binder syndrome (OMIM: 155050), a rare maxillonasal malformation with unknown etiology. She was sent for genetic evaluation at the age of 10 years because of facial dysmorphism and borderline intellectual disability. Cytogenetic analyses showed a de novo supernumerary small ring chromosome with a pericentromeric region of chromosome 5 in all lymphocytes. Array analysis revealed that the marker contains a 20,950 kb genomic region comprising cytogenetic bands 5p14.1 to q11.1. Altogether 7 reports have been published in the literature with partial trisomy of chromosome 5 overlapping with our case. These 8 cases were analysed for phenotype/genotype correlation which suggested that the maxillonasal anomalies of Binder phenotype and trisomy of pericentromeric region of chromosome 5 may be in causal relationship. Further functional annotation studies of genes localized in this genomic region should take this into consideration. To the best of our knowledge, this is the first report on a patient with association of a chromosome abnormality and clinical characteristics of Binder phenotype. | por |
| dc.description.sponsorship | Fundação para a Ciência e a Tecnologia | por |
| dc.identifier.citation | Cytogenet Genome Res. 2014;144(3):190-5. doi: 10.1159/000369653. Epub 2014 Dec 20 | por |
| dc.identifier.doi | 10.1159/000369653 | |
| dc.identifier.issn | 1424-8581 | |
| dc.identifier.uri | http://hdl.handle.net/10400.18/2859 | |
| dc.language.iso | eng | por |
| dc.peerreviewed | yes | por |
| dc.publisher | Karger | por |
| dc.relation | Colaboração bilateral entre Portugal e Hungria | por |
| dc.relation | The molecular pathogenesis of chromosome translocation-associated “cis-ruption” disorders | |
| dc.relation.publisherversion | http://www.karger.com/Article/Abstract/369653 | por |
| dc.subject | Binder Phenotype | por |
| dc.subject | Maxillonasal Dysplasia | por |
| dc.subject | Array Painting | por |
| dc.subject | Partial 5p Trisomy | por |
| dc.subject | Small Supernumerary Marker Chromosome | por |
| dc.subject | Doenças Genéticas | por |
| dc.title | Partial trisomy of the pericentromeric region of chromosome 5 in a girl with Binder phenotype | por |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.awardTitle | The molecular pathogenesis of chromosome translocation-associated “cis-ruption” disorders | |
| oaire.awardURI | info:eu-repo/grantAgreement/FCT/3599-PPCDT/PTDC%2FSAU-GMG%2F118140%2F2010/PT | |
| oaire.citation.title | Cytogenetic and Genome Research | por |
| oaire.fundingStream | 3599-PPCDT | |
| project.funder.identifier | http://doi.org/10.13039/501100001871 | |
| project.funder.name | Fundação para a Ciência e a Tecnologia | |
| rcaap.rights | embargoedAccess | por |
| rcaap.type | article | por |
| relation.isProjectOfPublication | bfe30e6a-27f3-4fef-abe7-61feea3fc38c | |
| relation.isProjectOfPublication.latestForDiscovery | bfe30e6a-27f3-4fef-abe7-61feea3fc38c |