Advances in chromosomal microarray analysis, next-generation sequencing, optical genome mapping, and long-read sequencing have significantly expanded the capabilities of clinical genomics. However, some balanced, cryptic, and structurally complex chromosomal abnormalities can remain difficult to fully characterize.
In this publication, Dr. Usha R. Dutta and colleagues from the Centre for DNA Fingerprinting and Diagnostics (CDFD), Hyderabad, present a series of diagnostically challenging cases demonstrating how targeted FISH, including whole-chromosome painting, can complement karyotyping and genomic technologies by providing direct positional and structural information.
The findings reinforce the continuing value of integrated cytogenomic workflows, where FISH and advanced genomic technologies work together to help resolve challenging chromosomal abnormalities and provide more complete diagnostic information.