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

Author(s)

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

• Document type: Journal article
• Source: Chromosome Research; v. 31, n. 1, p. 11-pg., 2023-02-24.

Abstract

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)

• FAPESP's process: 19/26175-8 - Investigation of mechanisms of formation of intrachromosomal rearrangements and its relation with the phenotype
• Grantee: Bruna Ferreira Burssed dos Santos
• Support Opportunities: Scholarships in Brazil - Master
• FAPESP's process: 14/11572-8 - Chromosomal rearrangements and their relevance in the etiology of genetic disorders: cytogenomic and molecular investigation
• Grantee: Maria Isabel de Souza Aranha Melaragno
• Support Opportunities: Research Projects - Thematic Grants
• FAPESP's process: 19/21644-0 - Impact of genetic variants on genomic stability and their effects on the phenotype
• Grantee: Maria Isabel de Souza Aranha Melaragno
• Support Opportunities: Research Projects - Thematic Grants