A Rare Case of Trisomy 15pter-q21.2 Due to a de Novo Marker Chromosome

A Rare Case of Trisomy 15pter-q21.2 Due to a de Novo Marker Chromosome

Autor Pacanaro, Ade Nubia Xavier Google Scholar
Christofolini, Denise Maria Google Scholar
Kulikowski, Leslie Domenici Google Scholar
Nogueira Belangero, Sintia Iole Google Scholar
Silva Bellucco, Fernanda Teixeira da Google Scholar
Varela, Monica C. Google Scholar
Koiffmann, Celia P. Google Scholar
Yoshimoto, Maisa Google Scholar
Squire, Jeremy A. Google Scholar
Schiavon, Adriana V. Google Scholar
Heck, Benjamin Google Scholar
Melaragno, Maria Isabel Autor UNIFESP Google Scholar
Instituição Universidade Federal de São Paulo (UNIFESP)
Universidade de São Paulo (USP)
Univ Toronto
Hosp Sao Camilo Pompeia
Resumo Supernumerary marker chromosomes (sSMC) may or may not be associated with an abnormal phenotype, depending on the presence of euchromatin, on their chromosomal origin and whether they are inherited. Over 80% of sSMCs are derived from acrocentric chromosomes and half of them include the short arm of chromosome 15. Generally, they appear as bisatellited isodicentric marker chromosomes, most of them are symmetric. These chromosomes are normally originated de novo and are associated with mild to severe intellectual disability but not with physical abnormalities. We report on a patient with an SMC studied using classical and molecular cytogenetic procedures (G and C banding, NOR staining, painting and centromeric fluorescent in situ hybridization (FISH), BAC-FISH, and SKY). the MLPA technique and DNA polymorphic markers were used in order to identify its parental origin. the marker chromosome, monosatellited and monocentric, was found to be derived from a maternal chromosome 15 and was defined as 15pter-q21.2. This is the report of the largest de novo monosatellited 15q marker chromosome ever published presenting detailed cytogenetic and clinical data. It was associated with a phenotype including cardiac defect, absence of septum pellucidum, and dysplasia of the corpus callosum. (C) 2010 Wiley-Liss, Inc.
Palavra-chave chromosome 15
duplication 15pter-q21.2
marker chromosome
partial trisomy
trisomy 15q
Idioma Inglês
Financiador Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
Data de publicação 2010-03-01
Publicado em American Journal of Medical Genetics Part A. Hoboken: Wiley-liss, v. 152A, n. 3, p. 753-758, 2010.
ISSN 1552-4825 (Sherpa/Romeo, fator de impacto)
Publicador Wiley-Blackwell
Extensão 753-758
Fonte http://dx.doi.org/10.1002/ajmg.a.33308
Direito de acesso Acesso restrito
Tipo Artigo
Web of Science WOS:000276155200031
Endereço permanente http://repositorio.unifesp.br/handle/11600/32310

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