In details

Genetic Diseases and Disorders



Genetic Diseases: transmitted from parents to children

What they are - definition

Also known as hereditary diseases, genetic diseases are those transmitted from parents to children, ie from generation to generation. Defective genes pass from parents to children and can lead to certain diseases or disorders. Remember that a defective gene is not always transmitted from parent to child. Therefore, a parent with a genetic disease or disorder may or may not pass on to their child.

Major genetic diseases and disorders (most common):

Chromosomes

These are those caused by defects (in quantity or structure) in a person's chromosomes:

- Down syndrome - genetic alteration in which the individual has 47 chromosomes (normal cell has 46 chromosomes), the most of which is linked to par 21.

- Cri-du-chat syndrome

- Turner Syndrome

- XYY Syndrome

- Klinefelter Syndrome

Monogenic

These are those caused by mutations that occur in the DNA sequence of a gene:

- sickle cell anemia

- Myotonic dystrophy

- Duchene Muscular Dystrophy

- Huntington's disease

- Tay-Sachs Disease

- Phenylketonuria

- Cystic fibrosis

- Hemophilia A

- Marfan Syndrome

- Thalassemia