Autosomal dominant diseases are inherited conditions caused by a dominant gene on one of the first 22 pairs of chromosomes. The spelling of autosomal dominant disease is [ɔːtəʊˈsəʊməl duːmɪnənt dɪˈziːz]. "Autosomal" refers to non-sex chromosomes, "dominant" means that only one copy of the gene is needed to cause the disease, and "disease" is a medical condition that affects the body or mind. It is important for medical professionals to accurately spell and pronounce terms related to genetics and inheritance to avoid confusion and ensure proper patient care.
Autosomal dominant disease is a medical term used to describe a type of genetic disorder that is inherited in an autosomal dominant pattern. 'Autosomal' refers to the non-sex chromosomes, i.e., any of the 22 pairs of chromosomes that do not determine an individual's sex. 'Dominant' means that the presence of a single copy of the abnormal gene in an affected person is enough to cause the disease, even if the other copy of the gene is normal.
This type of genetic disorder results from a mutation in a single gene located on one of the non-sex chromosomes. When a person inherits one copy of the mutated gene from one parent, they are at risk of developing the disease, regardless of the status of the other gene copy inherited from the other parent.
Autosomal dominant diseases can vary in their symptoms, age of onset, and the severity of the condition. Examples of autosomal dominant diseases include Huntington's disease, Marfan syndrome, and neurofibromatosis.
A key characteristic of autosomal dominant diseases is that affected individuals have a 50% chance of passing on the disorder to each of their children. If an individual does not inherit the abnormal gene from an affected parent, they will not have the disease and cannot pass it on to their descendants. Genetic counseling and testing can help individuals at risk understand their chances of inheriting or passing on an autosomal dominant disease.