A newly published study in Genes, Chromosomes and Cancer presents a detailed investigation of a rare case of bilateral retinoblastoma caused by a constitutional balanced paracentric inversion disrupting the RB1 gene. The research demonstrates how integrating multiple diagnostic approaches – including conventional cytogenetics, fluorescence in situ hybridization (FISH), and advanced genomic technologies such as whole genome sequencing and optical genome mapping – enables accurate detection of complex structural variants that may be missed by standard methods.
Within this workflow, cytogenetic analysis supported by ASI’s GenASIs platform played a key role in visualizing and interpreting chromosomal rearrangements, contributing to the identification and confirmation of the inversion. This study highlights the clinical value of combining complementary technologies to improve diagnostic accuracy in challenging genetic cases and reinforces the importance of advanced imaging and analysis tools in modern cytogenetics.