| Texto completo | |
| Autor(es): Mostrar menos - |
Chehimi, Samar Nasser
;
Almeida, Vanessa Tavares
;
Nascimento, Amom Mendes
;
Zanardo, Evelin Aline
;
de Oliveira, Yanca Gasparini
;
da Silva Carvalho, Gleyson Francisco
;
Wolff, Beatriz Martins
;
Montenegro, Marilia Moreira
;
de Assuncao, Nilson Antonio
;
Kim, Chong Ae
;
Kulikowski, Leslie Domenici
Número total de Autores: 11
|
| Tipo de documento: | Artigo Científico |
| Fonte: | Clinics; v. 77, p. 6-pg., 2022-05-28. |
| Resumo | |
Objectives: Copy Number Variations (CNVs) in the human genome account for common populational variations but can also be responsible for genetic syndromes depending on the affected region. Although a deletion in 5p is responsible for a syndrome with highly recognizable phenotypical features, other chromosomal abnormalities might overlap phenotypes, especially considering that most studies in 5p use traditional cytogenetic techniques and not molecular techniques. Methods: The authors have investigated 29 patients with clinical suspicion of 5p- syndrome using Chromosomal Microarray (CMA), and have gathered information on previous tests, clinical signs, symptoms, and development of the patients. Results: The results showed 23 pure terminal deletions, one interstitial deletion, one deletion followed by a 3 Mb duplication in 5p, three cases of 5p deletion concomitant to duplications larger than 20 Mb in chromosomes 2,9, and 18, and one 5p deletion with a chromosome Y deletion. CMA showed relevant CNVs not typically associated with 5p- that may have contributed to the final phenotype in these patients. Conclusions: The authors have identified three novel rearrangements between chromosomes 5 and 2 (Patient 27), 5 and 18 (Patient 11), and 5 and Y (Patient 22), with breakpoints and overlapped phenotypes that were not previously described. The authors also highlight the need for further molecular investigation using CMA, in different chromosomes beyond chromosome 5 (since those cases did not show only the typical deletion expected for the 5p- syndrome) to explain discordant chromosomal features and overlapped phenotypes to unravel the cause of the syndrome in atypical cases. (AU) | |
| Processo FAPESP: | 16/09452-0 - Mapeamento dos pontos de quebra do DNA e investigação dos mecanismos associados a rearranjos genômicos utilizando sequenciamento de nova geração. |
| Beneficiário: | Leslie Domenici Kulikowski |
| Modalidade de apoio: | Auxílio à Pesquisa - Regular |
| Processo FAPESP: | 18/02385-0 - Correlação entre os Perfis Metabolômico, Lipidômico e Proteômico e o Tamanho da Deleção 5p de Portadores da Síndrome de Cri-Du-Chat |
| Beneficiário: | Nilson Antonio de Assunção |
| Modalidade de apoio: | Auxílio à Pesquisa - Regular |