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(Referência obtida automaticamente do Web of Science, por meio da informação sobre o financiamento pela FAPESP e o número do processo correspondente, incluída na publicação pelos autores.)

Different Conformation of Two Supernumerary 18p Isochromosomes, One with a Concomitant Partial 18q Trisomy

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Autor(es):
Noronha Dutra, A. R. [1] ; Mancini, T. I. [1] ; Satomi Takeno, S. [1] ; Moyses Oliveira, M. [1] ; Kim, C. A. [2] ; Alvarez Perez, A. B. [1] ; Domenici Kulikowski, L. [3] ; Melaragno, M. I. [1]
Número total de Autores: 8
Afiliação do(s) autor(es):
[1] Univ Fed Sao Paulo, Dept Morfol & Genet, Disciplina Genet, BR-04023900 Sao Paulo - Brazil
[2] Univ Fed Sao Paulo, Unidade Genet, Inst Crianca, BR-04023900 Sao Paulo - Brazil
[3] Univ Fed Sao Paulo, Dept Patol, Lab Citogenomica, BR-04023900 Sao Paulo - Brazil
Número total de Afiliações: 3
Tipo de documento: Artigo Científico
Fonte: Cytogenetic and Genome Research; v. 138, n. 1, p. 1-4, 2012.
Citações Web of Science: 1
Resumo

The presence of a supernumerary 18p isochromosome is a rare chromosomal abnormality that results in 18p tetrasomy. This is a report on the clinical, cytogenetic and molecular findings of 2 non-related patients with a supernumerary 18p isochromosome. Both patients present some features of the 18p tetrasomy syndrome (strabismus, low-set ears, long and narrow fingers and toes), but additional characteristics were also observed. Cytogenetic analysis, FISH, MLPA and SNP array techniques showed that one of the isochromosomes is symmetric and monocentric, while the other is asymmetric and dicentric, yet resulting in a similar tetrasomy of the 18pter-18p10 region, followed by a partial 18q11.2 trisomy, an unprecedented finding in the literature. Copyright (C) 2012 S. Karger AG, Basel (AU)

Processo FAPESP: 10/50737-1 - Caracterizacao citomolecular de individuos com alteracoes cromossomicas e genomicas: busca por genes relevantes para as implicacoes clinicas.
Beneficiário:Maria Isabel de Souza Aranha Melaragno
Linha de fomento: Auxílio à Pesquisa - Regular