CHROMOSOME BREAKAGE STUDY FOR BLOOM’S/COCKAYNE SYNDROME

Description

Chromosome breakage studies are crucial for diagnosing Bloom’s syndrome and Cockayne syndrome, as both conditions are characterized by increased chromosome instability. In Bloom’s syndrome, these studies reveal increased sister chromatid exchanges (SCEs) and other chromosomal abnormalities in cultured cells. For Cockayne syndrome, genetic testing for mutations in the ERCC6 or ERCC8 genes, along with skin biopsies to assess DNA repair capabilities, are used for diagnosis.