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A novel insertion from chromosome 18 to chromosome 15 with a 183Kb 18q deletion

2017-07Conference object Open access
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dc.contributor.authorPinto Leite, Rosário
dc.contributor.authorSouto, Marta
dc.contributor.authorBotelho, Pedro
dc.contributor.authorPereira, Fernanda
dc.contributor.authorMarques, Bárbara
dc.contributor.authorCorreia, Hildeberto
dc.contributor.authorMoutinho, Osvaldo
dc.contributor.authorMartins, Márcia
dc.date.accessioned2018-03-06T17:20:15Z
dc.date.available2018-03-06T17:20:15Z
dc.date.issued2017-07
dc.description.abstractChromosome 18q- syndrome is a rare chromosomal disorder with an incidence of 1 in 40 000 live births. The phenotype is highly variable, depending on the amount of deleted genetic material, and is characterized by mental retardation, developmental delay, hypotonia, seizures, obesity, abnormal behavior, short stature and craniofacial dysmorphisms. We report a patient with mental retardation, dysmorphic features, hypotonia, growth retardation, severe expressive speech delay and Duane syndrome, with an insertion of 18q in 15q causing a 183Kb deletion in18q. Cytogenetic and SNP array analysis showed a female karyotype presenting a de novo rare chromosome rearrangement: an insertion of the 18q21q23 on the 15q22 region, with deletion 18q12.3 (chr18:42,484,980-42,667,966, [GRCh37]), involving only the MIR4319 and SETBP1 genes. There are few reports of 18q12.3 deletion associated with mild dysmorphic features, mental retardation and impairment of expressive language. To our knowledge this is the smallest deletion described, involving two genes: SETBP1 and a microRNA (MIR4319). SETBP1 gene is associated to expressive speech delay. The authors present a literature review of 18q12.3 deletion.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationMolecular Cytogenetics. 2017;10(Suppl 1):36pt_PT
dc.identifier.doi10.1186/s13039-017-0319-3pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/5229
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherBioMed Centralpt_PT
dc.relation.publisherversionhttps://molecularcytogenetics.biomedcentral.com/articles/10.1186/s13039-017-0319-3pt_PT
dc.subjectChromosome 18q- syndromept_PT
dc.subjectSETBP1pt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleA novel insertion from chromosome 18 to chromosome 15 with a 183Kb 18q deletionpt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlaceFlorença; Itáliapt_PT
oaire.citation.endPage36pt_PT
oaire.citation.issueSuppl 1pt_PT
oaire.citation.startPage36pt_PT
oaire.citation.title11th European Cytogenetics Conference, 1-4 July 2017pt_PT
oaire.citation.volume10pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typeconferenceObjectpt_PT

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