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  1. A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality.

  2. Una enfermedad o trastorno genético es una afección patológica causada por una alteración del genoma. 1 Esta puede ser hereditaria o no; si el gen alterado está presente en los gametos ( óvulos y espermatozoides) de la línea germinal, esta será hereditaria (pasará de generación en generación), por el contrario si solo afecta a las células somá...

  3. 20 de ago. de 2021 · Genetic disorders occur when a mutation affects your genes. Carrying the mutation doesn’t always mean you’ll end up with a disease. There are many types, including single-gene, multifactorial and chromosomal disorders. Contents Overview Symptoms and Causes Diagnosis and Tests Management and Treatment Prevention Outlook ...

  4. human genetic disease, any of the diseases and disorders that are caused by mutations in one or more genes. With the increasing ability to control infectious and nutritional diseases in developed countries, there has come the realization that genetic diseases are a major cause of disability, death, and human tragedy.

  5. 18 de may. de 2018 · Overview. A genetic disorder is a disease caused in whole or in part by a change in the DNA sequence away from the normal sequence. Genetic disorders can be caused by a mutation in one gene (monogenic disorder), by mutations in multiple genes (multifactorial inheritance disorder), by a combination of gene mutations and environmental ...

  6. Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. [3] . It is usually associated with developmental delays, mild to moderate intellectual disability, and characteristic physical features.