At the completion of this unit, the student will be able to ...

1. Describe the pathogenesis and clinical features of the following malformations: neural tube defects, fetal alcohol syndrome and TORCH complex.

2. Be familiar with the clinical and pathologic features of the following chromosome abnormalities: Down syndrome, Klinefelter syndrome and Turner syndrome.

3. Understand the concept of genomic imprinting.

4. Describe the clinical, chromosomal and molecular characteristics of Fragile X syndrome.

5. Describe the main features of autosomal dominant, and autosomal recessive, and x-linked recessive inheritance patterns.

6. Describe the pathologic characteristics and molecular basis of common and/or clasic autosomal dominant disorders including familial hypercholesterolemia, Marfan syndrome, Ehlers-Danlos syndrome, osteogenesis imperfecta, achondroplastic dwarfism and neurofibromatoses.

7. Describe the pathologic characteristics and the molecular basis of common and/or classic autosomal recessive disorders including cystic fibrosis, lysosomal storage diseases and amino acid metabolism disorders.

8. Be familiar with common diseases of the newborn including respiratory distress syndrome of the newborn and erythroblastosis fetalis.

9. Define the listed Keywords.

10. Identify key features and be able to recognize from projected slides each of the diseases/processes depicted in the Supplemental image database.