Simple and Complex Genetic Diseases. Simple: One gene -> one disease Example: sickle-cell anemia Complex: Many genes interacting with other and the environment -> one disease Examples: MS, Types I, II diabetes. Single Gene Disorders. Autosomal recessive Albinism Cystic fibrosis
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Metabolic disorder defect in galactose meatbolism,
5p13 and 2q33
Trisomy 18• Incidence 1:3333 live births• Most common abnormality in stillbirths with multiple congenital abnormalities• Prenatal growth deficiency resulting in a small for gestational age infant (SGA)•90% congenital heart defect VSD• 10% alive at one year• Marked developmental disability