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Ring chromosome 6 in a child with anterior segment dysgenesis and review of its overlap with other FOXC1 deletion phenotypes

2018-09-18Journal article Restricted access
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dc.contributor.authorCorona-Rivera, Jorge Román
dc.contributor.authorCorona-Rivera, Alfredo
dc.contributor.authorZepeda-Romero, Luz Consuelo
dc.contributor.authorRios-Flores, Izabel Maryalexandra
dc.contributor.authorRivera-Vargas, Jehú
dc.contributor.authorOrozco-Vela, Mireya
dc.contributor.authorSantana-Bejarano, Uriel Francisco
dc.contributor.authorTorres-Anguiano, Elizabeth
dc.contributor.authorPinto-Cardoso, Manuela
dc.contributor.authorDavid, Dezso
dc.contributor.authorBobadilla-Morales, Lucina
dc.date.accessioned2019-03-27T11:37:33Z
dc.date.available2019-03-27T11:37:33Z
dc.date.issued2018-09-18
dc.description.abstractHere, we report a patient with ring chromosome 6 [r(6)], associated with anterior segment dysgenesis (ASD) and other anomalies. The phenotype was due to a 1880 kb microdeletion at 6p25.3 identified by whole-genome array analysis, and was mainly attributable to a FOXC1 haploinsufficiency. Currently 37 patients with r(6) have been reported. We found that facial dysmorphism, ASD, heart anomalies, brain anomalies, and hearing loss are constant features only in severe cases of r(6), mainly related to hemizygosity of FOXC1. Thus, overlaps with other FOXC1 related phenotypes, such as the 6p25 deletion syndrome, Axenfeld-Rieger syndrome type 3, and ASD type 3. Contrarily, those patients whose r(6) does not disrupt FOXC1, have mild or moderate phenotypes and do not exhibit ASD.pt_PT
dc.description.sponsorshipFundação para a Ciência e a Tecnologia, Portugal, Research Grant, Grant/Award Number: HMSP‐ICT/0016/2013; CONACYT; Universidad de Guadalajara; PROINPEPpt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationCongenit Anom (Kyoto). 2018 Sep 18. doi: 10.1111/cga.12309. [Epub ahead of print]pt_PT
dc.identifier.doi10.1111/cga.12309pt_PT
dc.identifier.issn0914-3505
dc.identifier.urihttp://hdl.handle.net/10400.18/6325
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherWiley/ Japanese Teratology Societypt_PT
dc.relation.publisherversionhttps://onlinelibrary.wiley.com/doi/full/10.1111/cga.12309pt_PT
dc.subjectAxenfeld-Rieger Syndromept_PT
dc.subjectAnterior Segment Dysgenesispt_PT
dc.subjectChromosome 6pt_PT
dc.subjectCorneal Cloudingpt_PT
dc.subjectRing Chromosomept_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleRing chromosome 6 in a child with anterior segment dysgenesis and review of its overlap with other FOXC1 deletion phenotypespt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/3599-PPCDT/HMSP-ICT%2F0016%2F2013/PT
oaire.citation.endPage5pt_PT
oaire.citation.startPage1pt_PT
oaire.citation.titleCongenital Anomaliespt_PT
oaire.fundingStream3599-PPCDT
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.embargofctPolítica editorial da revistapt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typearticlept_PT
relation.isProjectOfPublication55f3392d-71be-4224-bedd-9feb4a06c428
relation.isProjectOfPublication.latestForDiscovery55f3392d-71be-4224-bedd-9feb4a06c428

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