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Tay-Sachs disease An inherited condition characterized by the absence of a single lysosomal enzyme called Hex A, which normally breaks down a membrane glycolipid called ganglioside G_M2 that is especially prevalent in nerve cells; usually occurs in children of Ashkenazi (eastern European Jewish) descent and is characterized by seizures and muscle rigidity.
These are genetic diseases that are due to an abnormal number or structure of the chromosomes. A frequent chromosome anomaly is Down syndrome. These are genetic diseases that are due to a mutation(s) in only 1 gen. They can be inherited in different ways: autosomal dominant, autosomal recessive, X-linked or Y-linked. Frequent monogenic diseases are cystic fibrosis, thalassemia and fragile X syndrome.