Honors Biology

1. Cystic Fibrosis Inheritance Pattern

Autosomal Recessive

DescriptionAffects the lungs and digestive systemThe body produces very thick, sticky mucus

○clogs the lungs○blocks the pancreas & enzymes from

breaking down and absorbing food

1. Cystic Fibrosis

Inheritance PatternAutosomal recessive

DescriptionAppear healthy at birthLack an enzyme – results in nervous

system damageUsually die by age 5More common in people of Jewish,

Irish, French-Canadian heritage

2. Tay Sachs

2. Tay Sachs

3. Sickle Cell Anemia Inheritance Pattern

Co-dominanceNeed two copies

DescriptionPain, infections, organ damageHeterozygous version = sickle cell trait

○More resistant to malaria○Can still pass it on to offspring

3. Sickle Cell Anemia

4. Achondroplasia Inheritance Pattern

Autosomal DominantFGFR3 gene

○A mutation can occur, leading to this condition from average-size parents

DescriptionBone growth disorderShort stature and shorter limbs

4. Achondroplasia

5. Huntington’s Disease Inheritance Pattern

Autosomal dominant

DescriptionDegenerative neurological disorderSymptoms usually appear in 40sInitially: mood swings, depressionOver time: dementia and complete loss

of motor control

5. Huntington’s Disease

6. Hemophilia Inheritance Pattern

X-linked recessiveOccasionally (no family history) caused

by a mutationMore common in males, females can

be carriers

DescriptionBlood does not clot properly

6. Hemophilia

7. Down Syndrome Inheritance Pattern

Chromosome alteration: non-disjunctionTrisomy 21

DescriptionCan range from mild to severe cognitive

and physical challengesCongenital heart diseaseHearing problems, eye problems

7. Down Syndrome

8. Duchenne Muscular Dystrophy

Inheritance PatternX-linked recessive

DescriptionInitial muscle weaknessAffects all voluntary musclesGenerally diagnosed before age 6Rare to live beyond age 30

8. Duchenne Muscular Dystrophy

9. Klinefelter’s Syndrome Inheritance Pattern

Chromosome alteration: non-disjunctionExtra sex chromosome: XXY

DescriptionCan affect physical, language and

social developmentGenerally infertile

9. Klinefelter’s Syndrome

10. Turner Syndrome Inheritance Pattern

Chromosome alteration: non-disjunctionOnly 1 sex chromosome: X (X0)

DescriptionVarying characteristics (physical & cognitive)

High blood pressure, kidney problemsGenerally infertile

10. Turner Syndrome

11. Phenylketonuria (PKU) Inheritance Pattern

Autosomal recessive

DescriptionCannot break down the amino acid

phenylalanine – can cause brain damageNewborn screeningTreatable – follow a special diet

11. Phenylketonuria (PKU)

11. Galactosemia Inheritance Pattern

Autosomal recessive

DescriptionCannot break down the sugar galactose

– toxic chemicals build up in cellsDamages: kidneys, liver, brain and eyesNewborn screeningTreatable – strict diet avoiding galactose

11. Galactosemia