Genetics & Metabolism Syndromes

1. CARDIOVASCULAR

1.1. DiGeorge/Velocardiofacial Syndrome/ Shprintzen Syndrome/ 22q11 Deletion Syndorme

1.1.1. Features

1.1.1.1. CHD in 74% (TOF, IAA B, conotruncal defects), immune dysfunction.

1.1.2. Clinical Tests

1.1.3. Molecular Tests

1.1.4. Mechanism

1.1.5. Treatment

2. RESPIRATORY

3. RENAL

4. GU

5. GI

6. NEURO

7. MUSC/SKELETAL

8. ENDOCRINOLOGY

9. DERMATOLOGY