Is Tay-Sachs a chromosome abnormality?
No. Tay-Sachs is a Genetic disorder. It is caused by defective gene. A gene is only a very very small part of a chromosome. I guess if you have a defective gene, you could argue that the chromosome is defective because it has a defective gene, BUT this is NOT the way scientists generally think about chromosome abnormalities. Chromosomal abnormalities or aberrations are genetic mutations that occur on a larger scale. They occur when a whole or large piece of chromosome carrying multiple genes (maybe thousands of genes) is in some way duplicated in one gamete (egg or sperm), resulting in 3 copies of that chromosome or part of chromosome in every cell in the resulting organism. These types of mutations are usually lethal. An example of a chromosome abnormality is Trisomy 21. Tay-Sachs disease (abbreviated TSD, also known as GM2 gangliosidosis, Hexosaminidase A deficiency or Sphingolipidosis) is a genetic disorder, fatal in its most common variant known as Infantile Tay-Sachs disease. TSD
