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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.)

Deletion of Chromosome 13 due to Different Rearrangements and Impact on Phenotype

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Bellucco, Fernanda T. [1] ; de Oliveira-Junior, Helio Rodrigues [1] ; Guilherme, Roberta Santos [1] ; Bragagnolo, Silvia [1] ; Alvarez Perez, Ana B. [1] ; Meloni, Vera Ayres [1] ; Melaragno, I, Maria
Número total de Autores: 7
Afiliação do(s) autor(es):
[1] I, Univ Fed Sao Paulo, Dept Morphol & Genet, Genet Div, Rua Botucatu 740, BR-04023900 Sao Paulo, SP - Brazil
Número total de Afiliações: 1
Tipo de documento: Artigo Científico
Fonte: MOLECULAR SYNDROMOLOGY; v. 10, n. 3, p. 139-146, 2019.
Citações Web of Science: 0

Patients with deletion of chromosome 13 present with variable clinical features, and the correlation between phenotype and genomic aberration is not well established in the literature, mainly due to variable sizes of the deleted segments and inaccuracy of breakpoint mapping. In order to improve the genotype-phenotype correlation, we obtained clinical and cytogenomic data from 5 Brazilian patients with different chromosome 13 deletions characterized by G-banding and array techniques. Breakpoints were nonrecurrent, with deletion sizes ranging from 3.8 to 43.3 Mb. Our patients showed some classic features associated with 13q deletion, independent of the location and size of the deletion: hypotonia, growth delay, psychomotor developmental delay, microcephaly, central nervous system anomalies, and minor facial dysmorphism as well as urogenital and limb abnormalities. Comparisons between the literature and our patients' data allowed us to narrow the critical regions that were previously reported for microphthalmia and urogenital abnormalities, indicating that gene haploinsufficiency of ARHGEF7, PCDH9 and DIAPH3, of MIR17HG and GPC6, and of EFNB2 may contribute to microcephaly, cardiovascular disease, and urogenital abnormalities, respectively. The knowledge about genes involved in the phenotypic features found in 13q deletion patients may help us to understand how the genes interact and contribute to their clinical phenotype, improving the patient's clinical follow-up. (C) 2019 S. Karger AG, Basel (AU)

Processo FAPESP: 14/11572-8 - Rearranjos cromossômicos e sua importância na etiologia das doenças genéticas: investigação citogenômica e molecular
Beneficiário:Maria Isabel de Souza Aranha Melaragno
Linha de fomento: Auxílio à Pesquisa - Temático