Publications by authors named "I Bestetti"
Article Synopsis
- - Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that impacts physical development and cognitive abilities, primarily caused by mutations in genes linked to the cohesin complex, though many cases remain undiagnosed.
- - The study presents a family case where multiple members have an intragenic duplication in the AFF2 gene, identified using advanced genomic technologies like high-resolution array Comparative Genomic Hybridization and next-generation sequencing.
- - The research shows a clear correlation between the AFF2 gene mutation and the CdLS phenotype, with the affected individuals displaying significant changes in gene expression and X-inactivation patterns compared to an unaffected relative, suggesting that AFF2 should be included in molecular diagnosis for CdLS.
Article Synopsis
- The study utilized long-read sequencing (LRS) to analyze a patient diagnosed with Cornelia de Lange syndrome (CDLS), a genetic disorder related to defects in cohesin complex genes, particularly those located at 5p13.2.
- Initial tests showed an abnormal chromosome structure (46,XY,t(5;15)(p13;q25)dn) but did not identify significant copy number variations or pathogenic alterations through standard methods like a-CGH and FISH.
- LRS uncovered a chromothripsis event at 5p13.2, involving multiple chromosome breaks and rearrangements, which clarified the molecular cause of CDLS that traditional diagnostic techniques had missed, emphasizing LRS's value in clinical genetics.
Objectives: To establish the positive predictive values (PPV) of cfDNA testing based on data from a nationwide survey of independent clinical cytogenetics laboratories.
Methods: Prenatal diagnostic test results obtained by Italian laboratories between 2013 and March 2020 were compiled for women with positive non-invasive prenatal tests (NIPT), without an NIPT result, and cases where there was sex discordancy between the NIPT and ultrasound. PPV and other summary data were reviewed.