Honors Biology Genetic Disorders

1. Cystic Fibrosis Inheritance Pattern Description Autosomal Recessive Affects the lungs and digestive system The body produces very thick, sticky mucus clogs the lungs blocks the pancreas & enzymes from breaking down and absorbing food

1. Cystic Fibrosis

2. Tay Sachs Inheritance Pattern Description Autosomal recessive Appear healthy at birth Lack an enzyme – results in nervous system damage Usually die by age 5 More common in people of Jewish, Irish, French-Canadian heritage

2. Tay Sachs

3. Sickle Cell Anemia Inheritance Pattern Description Co-dominance Need two copies Description Pain, infections, organ damage Heterozygous version = sickle cell trait More resistant to malaria Can still pass it on to offspring

3. Sickle Cell Anemia

4. Achondroplasia Inheritance Pattern Description Autosomal Dominant FGFR3 gene A mutation can occur, leading to this condition from average-size parents Description Bone growth disorder Short stature and shorter limbs

4. Achondroplasia

5. Huntington’s Disease Inheritance Pattern Description Autosomal dominant Description Degenerative neurological disorder Symptoms usually appear in 40s Initially: mood swings, depression Over time: dementia and complete loss of motor control

5. Huntington’s Disease

6. Hemophilia Inheritance Pattern Description X-linked recessive Occasionally (no family history) caused by a mutation More common in males, females can be carriers Description Blood does not clot properly

6. Hemophilia

7. Down Syndrome Inheritance Pattern Description Chromosome alteration: non-disjunction Trisomy 21 Description Can range from mild to severe cognitive and physical challenges Congenital heart disease Hearing problems, eye problems

7. Down Syndrome

8. Duchenne Muscular Dystrophy Inheritance Pattern X-linked recessive Description Initial muscle weakness Affects all voluntary muscles Generally diagnosed before age 6 Rare to live beyond age 30

8. Duchenne Muscular Dystrophy

9. Klinefelter’s Syndrome Inheritance Pattern Chromosome alteration: non-disjunction Extra sex chromosome: XXY Description Can affect physical, language and social development Generally infertile

9. Klinefelter’s Syndrome

10. Turner Syndrome Inheritance Pattern Description Chromosome alteration: non-disjunction Only 1 sex chromosome: X (X0) Description Varying characteristics (physical & cognitive) High blood pressure, kidney problems Generally infertile

10. Turner Syndrome

11. Phenylketonuria (PKU) Inheritance Pattern Autosomal recessive Description Cannot break down the amino acid phenylalanine – can cause brain damage Newborn screening Treatable – follow a special diet

11. Phenylketonuria (PKU)

11. Galactosemia Inheritance Pattern Description Autosomal recessive Cannot break down the sugar galactose – toxic chemicals build up in cells Damages: kidneys, liver, brain and eyes Newborn screening Treatable – strict diet avoiding galactose

11. Galactosemia