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Clinical and genetic findings in Hungarian pediatric patients carrying chromosome 16p copy number variants and a review of the literature

2020-10Journal article Open access
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dc.contributor.authorLengyel, Anna
dc.contributor.authorPinti, Éva
dc.contributor.authorPikó, Henriett
dc.contributor.authorJávorszky, Eszter
dc.contributor.authorDavid, Dezső
dc.contributor.authorTihanyi, Mariann
dc.contributor.authorGönczi, Éva
dc.contributor.authorKiss, Eszter
dc.contributor.authorTóth, Zsuzsa
dc.contributor.authorTory, Kálmán
dc.contributor.authorFekete, György
dc.contributor.authorHaltrich, Irén
dc.date.accessioned2021-04-07T14:56:44Z
dc.date.available2021-04-07T14:56:44Z
dc.date.issued2020-10
dc.description.abstractThe short arm of chromosome 16 (16p) is enriched for segmental duplications, making it susceptible to recurrent, reciprocal rearrangements implicated in the etiology of several phenotypes, including intellectual disability, speech disorders, developmental coordination disorder, autism spectrum disorders, attention deficit hyperactivity disorders, obesity and congenital skeletal disorders. In our clinical study 73 patients were analyzed by chromosomal microarray, and results were confirmed by fluorescence in situ hybridization or polymerase chain reaction. All patients underwent detailed clinical evaluation, with special emphasis on behavioral symptoms. 16p rearrangements were identified in 10 individuals. We found six pathogenic deletions and duplications of the recurrent regions within 16p11.2: one patient had a deletion of the distal 16p11.2 region associated with obesity, while four individuals had duplications, and one patient a deletion of the proximal 16p11.2 region. The other four patients carried 16p variations as second-site genomic alterations, acting as possible modifying genetic factors. We present the phenotypic and genotypic results of our patients and discuss our findings in relation to the available literature.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationEur J Med Genet. 2020 Oct;63(10):104027. doi: 10.1016/j.ejmg.2020.104027. Epub 2020 Aug 3.pt_PT
dc.identifier.doi10.1016/j.ejmg.2020.104027pt_PT
dc.identifier.issn1769-7212
dc.identifier.urihttp://hdl.handle.net/10400.18/7650
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherElsevierpt_PT
dc.relation.publisherversionhttps://www.sciencedirect.com/science/article/pii/S1769721220300112?via%3Dihubpt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectAbnormalities, Multiplept_PT
dc.subjectAutism Spectrum Disorderpt_PT
dc.subjectBrainpt_PT
dc.subjectChildpt_PT
dc.subjectChild, Preschoolpt_PT
dc.subjectChromosome Aberrationspt_PT
dc.subjectChromosomes, Human, Pair 16pt_PT
dc.subjectDNA Copy Number Variationspt_PT
dc.subjectDevelopmental Disabilitiespt_PT
dc.subjectFemalept_PT
dc.subjectGene Ontologypt_PT
dc.subjectGenetic Association Studiespt_PT
dc.subjectHumanspt_PT
dc.subjectHungarypt_PT
dc.subjectIn Situ Hybridization, Fluorescencept_PT
dc.subjectInfantpt_PT
dc.subjectIntellectual Disabilitypt_PT
dc.subjectMagnetic Resonance Imagingpt_PT
dc.subjectMalept_PT
dc.subjectMicroarray Analysispt_PT
dc.subjectObesitypt_PT
dc.subjectPhenotypept_PT
dc.subjectSegmental Duplications, Genomicpt_PT
dc.subjectSequence Deletionpt_PT
dc.subjectTomography Scanners, X-Ray Computedpt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleClinical and genetic findings in Hungarian pediatric patients carrying chromosome 16p copy number variants and a review of the literaturept_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.issue10pt_PT
oaire.citation.startPage104027pt_PT
oaire.citation.titleEuropean Journal of Medical Geneticspt_PT
oaire.citation.volume63pt_PT
rcaap.embargofctAcesso de acordo com política editorial da revista.pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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