Use este identificador para citar ou linkar para este item: http://repositorio.bc.ufg.br/handle/ri/15546
Tipo do documento: Artigo
Título: 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
Autor: Pinto, 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
Abstract: Background: 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.
Palavras-chave: Intellectual disability
CMA
18q partial trisomy
Microdeletion
Microduplication
Mosaicism
País: Gra-bretanha
Unidade acadêmica: Instituto de Ciências Biológicas - ICB (RG)
Citação: PINTO, 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.
Tipo de acesso: Acesso Aberto
URI: http://repositorio.bc.ufg.br/handle/ri/15546
Data de publicação: Jun-2014
Aparece nas coleções:ICB - Artigos publicados em periódicos

Arquivos associados a este item:
Arquivo Descrição TamanhoFormato 
Artigo - Irene Plaza Pinto - 2014.pdf1,17 MBAdobe PDFThumbnail
Baixar/Abrir


Este item está licenciada sob uma Licença Creative Commons Creative Commons