16q21

16q21 refers to a specific locus on the human genome, located on the long arm (q) of chromosome 16 at band 21. This region is a segment of DNA that can be involved in various genetic alterations, including deletions, duplications, inversions, and translocations.

Alterations at 16q21 have been associated with a range of clinical conditions, though the specific phenotype can depend on the precise nature and size of the genetic change, as well as the genes affected within that region. Some reported associations include developmental delay, intellectual disability, and characteristic facial features. The genes present within the 16q21 region play roles in various cellular processes, and their disruption can lead to developmental abnormalities.

Genetic testing, such as chromosomal microarray analysis or karyotyping, can identify alterations at 16q21. The interpretation of these findings often requires careful consideration of the patient's clinical presentation and comparison with known genotype-phenotype correlations. Research continues to refine our understanding of the specific genes and mechanisms involved in conditions linked to 16q21 variations.