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It is important to note, however, that these disorders can occur in any ethnic group. 28 Chapter 4 Genetic Counseling What is a genetic consultation? A genetic consultation is a health service that provides information and support to people who have, or may be at risk for, genetic disorders. During a consultation, a genetics professional meets with an individual or family to discuss genetic risks or to diagnose, confirm, or rule out a genetic condition. Genetics professionals include medical geneticists (doctors who specialize in genetics) and genetic counselors (certified healthcare workers with experience in medical genetics and counseling).
If a genetic condition has highly variable signs and symptoms, it may be challenging to diagnose. What do geneticists mean by anticipation? The signs and symptoms of some genetic conditions tend to become more severe and appear at an earlier age as the disorder is passed from one generation to the next. This phenomenon is called anticipation. Anticipation is most often seen with certain genetic disorders of the nervous system, such as Huntington disease, myotonic dystrophy, and fragile X syndrome.
This type of mutation can cause the resulting protein to function improperly. Can a change in the number of genes affect health and development? People have two copies of most genes, one copy inherited from each parent. In some cases, however, the number of copies varies—meaning that a person can be born with one, three, or more copies of particular genes. Less commonly, one or more genes may be entirely missing. This type of genetic difference is known as copy number variation (CNV). Copy number variation results from insertions, deletions, and duplications of large segments of DNA.
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