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Rare Genomic Rearrangement in a Boy with Williams-Beuren Syndrome Associated to XYY Syndrome and Intriguing Behavior

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Autor(es):
Dutra, Roberta L. [1, 2] ; Piazzon, Flavia B. [2] ; Zanardo, Evelin A. [2] ; Moura Machado Costa, Thais Virginia [2] ; Montenegro, Marilia M. [1, 2] ; Novo-Filho, Gil M. [1, 2] ; Dias, Alexandre T. [2] ; Nascimento, Amom M. [1, 2] ; Kim, Chong Ae [1] ; Kulikowski, Leslie D. [3, 2]
Número total de Autores: 10
Afiliação do(s) autor(es):
[1] Univ Sao Paulo, Fac Med, Inst Crianca, Genet Unit, Sao Paulo - Brazil
[2] Univ Sao Paulo, Fac Med, Dept Pathol, Cytogenom Lab LIM03, Sao Paulo - Brazil
[3] Fac Med ABC, Human Reprod & Genet Ctr, Dept Collect Hlth, Santo Andre, SP - Brazil
Número total de Afiliações: 3
Tipo de documento: Artigo Científico
Fonte: AMERICAN JOURNAL OF MEDICAL GENETICS PART A; v. 167, n. 12, p. 3197-3203, DEC 2015.
Citações Web of Science: 1
Resumo

Williams-Beuren syndrome (WBS) is caused by a hemizygous contiguous gene microdeletion of 1.55-1.84 Mb at 7q11.23 region. Approximately, 28 genes have been shown to contribute to classical phenotype of SWB with presence of dysmorphic facial features, supravalvular aortic stenosis (SVAS), intellectual disability, and overfriendliness. With the use of Microarray-based comparative genomic hybridization and other molecular cytogenetic techniques, is possible define with more accuracy partial or atypical deletion and refine the genotype-phenotype correlation. Here, we report on a rare genomic structural rearrangement in a boy with atypical deletion in 7q11.23 and XYY syndrome with characteristic clinical signs, but not sufficient for the diagnosis of WBS. Cytogenetic analysis of G-banding showed a karyotype 47, XYY. Analysis of DNA with the technique of MLPA (Multiplex Ligation-dependent Probe Amplification) using kits a combination of kits (P064, P036, P070, and P029) identified an atypical deletion on 7q11.23. In addition, high resolution SNP Oligonucleotide Microarray Analysis (SNP-array) confirmed the alterations found by MLPA and revealed others pathogenic CNVs, in the chromosomes 7 and X. The present report demonstrates an association not yet described in literature, between Williams-Beuren syndrome and 47, XYY. The identification of atypical deletion in 7q11.23 concomitant to additional pathogenic CNVs in others genomic regions allows a better comprehension of clinical consequences of atypical genomic rearrangements. (C) 2015 Wiley Periodicals, Inc. (AU)

Processo FAPESP: 09/53105-9 - Aplicação da citogenética molecular no diagnóstico de pacientes com anomalias congênitas para a redução da mortalidade infantil
Beneficiário:Leslie Domenici Kulikowski
Linha de fomento: Auxílio à Pesquisa - Pesquisa em Políticas Públicas para o SUS
Processo FAPESP: 10/52710-3 - Investigação etiológica da variação no número de cópias em pacientes com anomalias congênitas e atraso de desenvolvimento neuropsicomotor (ADNPM) pela técnica de MLPA (multiplex ligation-dependent probe ampli
Beneficiário:Roberta Lelis Dutra
Linha de fomento: Bolsas no Brasil - Doutorado