Fold-back mechanism originating inv-dup-del rearrangements in chromosomes 13 and 15

Autor(es)

Burssed, Bruna ; Zamariolli, Malu ; Favilla, Bianca Pereira ; Meloni, Vera Ayres ; Goloni-Bertollo, Eny Maria ; Bellucco, Fernanda Teixeira ; Melaragno, Maria Isabel

• Tipo de documento: Artigo Científico
• Fonte: Chromosome Research; v. 31, n. 1, p. 11-pg., 2023-02-24.

Resumo

Intrachromosomal rearrangements involve a single chromosome and can be formed by several proposed mechanisms. We reported two patients with intrachromosomal duplications and deletions, whose rearrangements and breakpoints were characterized through karyotyping, chromosomal microarray, fluorescence in situ hybridization, whole-genome sequencing, and Sanger sequencing. Inverted duplications associated with terminal deletions, known as inv-dup-del rearrangements, were found in 13q and 15q in these patients. The presence of microhomology at the junction points led to the proposal of the Fold-back mechanism for their formation. The use of different high-resolution techniques allowed for a better characterization of the rearrangements, with Sanger sequencing of the junction points being essential to infer the mechanisms of formation as it revealed microhomologies that were missed by the previous techniques. A karyotype-phenotype correlation was also performed for the characterized rearrangements. (AU)

• Processo FAPESP: 19/26175-8 - Investigação de mecanismos de formação de rearranjos intracromossômicos e sua relação com o fenótipo
• Beneficiário: Bruna Ferreira Burssed dos Santos
• Modalidade de apoio: Bolsas no Brasil - Mestrado
• 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
• Modalidade de apoio: Auxílio à Pesquisa - Temático
• Processo FAPESP: 19/21644-0 - Impacto de variantes genéticas na estabilidade do genoma e seus efeitos no fenótipo
• Beneficiário: Maria Isabel de Souza Aranha Melaragno
• Modalidade de apoio: Auxílio à Pesquisa - Temático