Genetic abnormalities
Genetic Abnormalities
Genetic abnormalities (pronunciation: /dʒɪˈnɛtɪk æbnɔːˈmælɪtiz/) are irregularities in the DNA sequence that make up a gene, such that the sequence differs from what is usually found in most people. These abnormalities can range from a small mutation in a single gene to the addition or subtraction of an entire chromosome.
Etymology
The term "genetic" is derived from the Greek word "genetikos" which means "genitive" and "genes" meaning "born". The term "abnormality" comes from the Latin word "abnormis" which means "away from the norm".
Types of Genetic Abnormalities
There are several types of genetic abnormalities, including:
- Single gene abnormalities: These are caused by mutations in the DNA sequence of a single gene. Examples include Cystic fibrosis, Sickle cell anemia, and Huntington's disease.
- Chromosomal abnormalities: These occur when there are missing or extra copies of a chromosome. Examples include Down syndrome, Turner syndrome, and Klinefelter syndrome.
- Complex genetic abnormalities: These are caused by a combination of environmental factors and mutations in multiple genes. Examples include Heart disease, High blood pressure, and Alzheimer's disease.
Diagnosis and Treatment
Genetic abnormalities can be diagnosed through various methods such as Genetic testing, Prenatal testing, and Newborn screening. Treatment for genetic abnormalities depends on the specific condition and may include medical management, surgery, Genetic counseling, and Gene therapy.
Related Terms
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