8q21

8q21 is a specific locus on the human chromosome 8. The "q" arm refers to the longer arm of the chromosome, and "21" indicates a region and band within that arm. This region is of interest in genetic research due to its association with various chromosomal abnormalities and genetic conditions. Alterations in the 8q21 region have been observed in individuals with developmental delays, intellectual disability, and specific congenital anomalies. These alterations can manifest as deletions, duplications, translocations, or inversions of chromosomal material. For example, certain deletions within 8q21 have been linked to specific syndromes characterized by facial dysmorphia and other developmental issues. Conversely, duplications in this area can also lead to distinct phenotypic presentations. Researchers study 8q21 to understand the genes located in this region and their role in normal development and disease pathogenesis. Techniques such as comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH) are often employed to detect and characterize structural variations at the 8q21 locus. Ongoing research aims to further define the genes and regulatory elements within 8q21 and their precise contribution to human health and disease.