Rare Diseases and Orphan Drugs

The chromosomal abnormality is also known as aberration it is defined as a disorder characterized by the morphological or the numerical alteration that is in single or multiple chromosomes, sex chromosomes, or both. The chromosomal abnormalities are occurred as an accident when the sperm is formed or during the development stage of fetus. When the age of the mother and specific environmental factors may play a role in the genetic errors. Testing and parental screening can be performed to analysis the chromosomes of the fetus and some of them detect but not all types of chromosomal abnormalities.

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