A non-syndromic intellectual disability associated with a de novo microdeletion at 7q and 18p, microduplication at Xp, and 18q partial trisomy detected using chromosomal microarray analysis approach

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dc.creatorPinto, Irene Plaza
dc.creatorMinasi, Lysa Bernardes
dc.creatorCruz, Alex Silva da
dc.creatorMelo, Aldaires Vieira de
dc.creatorCunha, Damiana Míriam da Cruz e
dc.creatorPereira, Rodrigo Roncato
dc.creatorRibeiro, Cristiano Luiz
dc.creatorSilva, Cláudio Carlos da
dc.creatorSilva, Daniela de Melo e
dc.creatorCruz, Aparecido Divino da
dc.date.accessioned2018-08-06T12:40:37Z
dc.date.available2018-08-06T12:40:37Z
dc.date.issued2014-06
dc.description.abstractBackground: Chromosome abnormalities that segregate with a disease phenotype can facilitate the identification of disease loci and genes. The relationship between chromosome 18 anomalies with severe intellectual disability has attracted the attention of cytogeneticists worldwide. Duplications of the X chromosome can cause intellectual disability in females with variable phenotypic effects, due in part to variations in X-inactivation patterns. Additionally, deletions of the 7qter region are associated with a range of phenotypes. Results: We report the first case of de novo microdeletion at 7q and 18p, 18q partial trisomy, microduplication at Xp associated to intellectual disability in a Brazilian child, presenting a normal karyotype. Karyotyping showed any chromosome alteration. Chromosomal microarray analysis detected a de novo microdeletion at 18p11.32 and 18q partial trisomy, an inherited microdeletion at 7q31.1 and a de novo microduplication at Xp22.33p21.3. Conclusions: Our report illustrates a case that presents complex genomic imbalances which may contribute to a severe clinical phenotypes. The rare and complex phenotypes have to be investigated to define the subsets and allow the phenotypes classification.pt_BR
dc.identifier.citationPINTO, Irene Plaza; MINASI, Lysa Bernardes; CRUZ, Alex Silva da; MELO, Aldaires Vieira de; CUNHA, Damiana Míriam da Cruz e; PEREIRA, Rodrigo Roncato; RIBEIRO, Cristiano Luiz; SILVA, Cláudio Carlos da; SILVA, Daniela de Melo e; CRUZ, Aparecido Divino da. A non-syndromic intellectual disability associated with a de novo microdeletion at 7q and 18p, microduplication at Xp, and 18q partial trisomy detected using chromosomal microarray analysis approach. Molecular Cytogenetics, London, v. 7, e44, Jun. 2014.pt_BR
dc.identifier.issne- 1755-8166
dc.identifier.issn10.1186/1755-8166-7-44
dc.identifier.urihttp://repositorio.bc.ufg.br/handle/ri/15546
dc.language.isoengpt_BR
dc.publisher.countryGra-bretanhapt_BR
dc.publisher.departmentInstituto de Ciências Biológicas - ICB (RG)pt_BR
dc.rightsAcesso Abertopt_BR
dc.subjectIntellectual disabilitypt_BR
dc.subjectCMApt_BR
dc.subject18q partial trisomypt_BR
dc.subjectMicrodeletionpt_BR
dc.subjectMicroduplicationpt_BR
dc.subjectMosaicismpt_BR
dc.titleA non-syndromic intellectual disability associated with a de novo microdeletion at 7q and 18p, microduplication at Xp, and 18q partial trisomy detected using chromosomal microarray analysis approachpt_BR
dc.typeArtigopt_BR

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