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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

Genomic Investigation of Balanced Chromosomal Rearrangements in Patients with Abnormal Phenotypes

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Simioni, Milena ; Artiguenave, Francois ; Meyer, Vincent ; Sgardioli, Ilaria C. ; Viguetti-Campos, Nilma L. ; Monlleo, Isabella Lopes ; Maciel-Guerra, Andrea T. ; Steiner, Carlos E. ; Gil-da-Silva-Lopes, Vera L.
Total Authors: 9
Document type: Journal article
Source: MOLECULAR SYNDROMOLOGY; v. 8, n. 4, p. 187-194, 2017.
Web of Science Citations: 1

Balanced chromosomal rearrangements (BCR) are associated with abnormal phenotypes in approximately 6% of balanced translocations and 9.4% of balanced inversions. Abnormal phenotypes can be caused by disruption of genes at the breakpoints, deletions, or positional effects. Conventional cytogenetic techniques have a limited resolution and do not enable a thorough genetic investigation. Molecular techniques applied to BCR carriers can contribute to the characterization of this type of chromosomal rearrangement and to the phenotype-genotype correlation. Fifteen individuals among 35 with abnormal phenotypes and BCR were selected for further investigation by molecular techniques. Chromosomal rearrangements involved 11 reciprocal translocations, 3 inversions, and 1 balanced insertion. Array genomic hybridization (AGH) was performed and genomic imbalances were detected in 20% of the cases, 1 at a rearrangement breakpoint and 2 further breakpoints in other chromosomes. Alterations were further confirmed by FISH and associated with the phenotype of the carriers. In the analyzed cases not showing genomic imbalances by AGH, next-generation sequencing (NGS), using whole genome libraries, prepared following the Illumina TruSeq DNA PCRFree protocol (Illumina((R))) and then sequenced on an Illumina HiSEQ 2000 as 150-bp paired-end reads, was done. The NGS results suggested breakpoints in 7 cases that were similar or near those estimated by karyotyping. The genes overlapping 6 breakpoint regions were analyzed. Follow-up of BCR carriers would improve the knowledge about these chromosomal rearrangements and their consequences. (C) 2017 S. Karger AG, Basel (AU)

FAPESP's process: 11/23794-7 - Investigative approach in cleft lip and palate and congenital cadiopathy related to 22q11.2 deletion syndrome using open array and aGH techniques
Grantee:Vera Lúcia Gil da Silva Lopes
Support type: Regular Research Grants
FAPESP's process: 12/10071-0 - Genomic study of apparently balanced chromosomal rearrangements in individuals with abnormal phenotype
Grantee:Milena Simioni de Carvalho
Support type: Scholarships in Brazil - Post-Doctorate