A chromosome 16 deletion is a rare genetic condition in which part of the genetic material is missing that makes up chromosome 16, one of the body’s 46 chromosomes. Like most other chromosome disorders, this increases the risk of birth defects, developmental delay and learning difficulties. However, the likelihood of problems developing depends very much on what chromosome material is missing. Each chromosome has a short (p) and a long (q) arm, so a 16q deletion means that material has been lost from the long arm. A large 16q deletion can also be called monosomy 16q.
