Down Syndrome

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Down Syndrome by Mind Map: Down Syndrome

1. Etiology

1.1. Causative Factors

1.1.1. Full trisomy of chromosome 21 (90-95%)

1.1.2. Chromosome 21 mosaicism (1%-3%)

1.1.3. Inheritance of a structural rearrangement leading to translocation or partial trisomy of chromosome 21

1.2. Risk Factors

1.2.1. Maternal age: 3% -5% after age 45

1.2.2. Either parent is carrier of structural rearrangement leading to partial trisomy of chromosome 21

2. Common Findings

2.1. Small low set ears

2.2. Brachycephaly

2.3. Flat face

2.4. Epicanthic folds

2.5. Flat nasal bridge

2.6. Large protruding tongue

2.7. Upward slant to the eyes

2.8. Poor muscle tone

2.9. Short stature

2.10. Congenital heart defects

3. Treatment

3.1. No cure

3.2. Surgical interventions

3.3. Treatable health conditions

3.3.1. Thyroid disease

3.3.2. Osteoporosis

3.3.3. Cardiac conditions

3.3.4. Respiratory infections

3.3.5. Obesity

3.3.6. Cancer

3.3.7. Type 1 diabetes

3.3.8. Visual and hearing impairments

3.3.9. Alzheimer's

4. Diagnostic tests

4.1. Non-invasive prenatal testing (NIPT)

4.2. Amniocentesis

4.3. Trophoblast biopsy