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genetic disorder

Genetic Disorders



List of Genetic Disorder

1. Down syndrome (Trisomy 21)

2. Thalassemia/ Hemochromatosis

3. Sickle cell Anemia

4. Phenylketonuria; amino acid phenylalanine to build up in body.

5. Autosomal recessive disorder (inherit two mutated genes, one from each parent).

For example; Cystic fibrosis

Sickle cell anemia

Tay- Sachs disease (destroy nerve cell in brain and spinal cord).

6. Turner syndrome

7. Klinefelter's syndrome

8. Autosomal dominant disorder; Huntington disease (Huntington's chorea)

9. NTD (Neural tube defects)

Congenital Abnormalities

1. Congenital Heart defect

2. Neural Tube defects

3. Down syndrome

4. Cleft lip and cleft palate


Congenital disorder caused by teratogens

Substance or any agent that interferes with normal development of fetus. During pregnancy, causes birth defect;

1. Drug

2. Chemical

3. Alcohol/smoking/tobacco

4. Gases

5. Radiation

6. Infection;

Rubella viruses (German measles)

Varicella virus


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