2. Instructions
• Read the information on each slide and complete
a chart in your notebooks resembling the one
below (you should build your chart as you go to
ensure the right amount of space and number of
rows).
Genetic
Disorder
Symptoms and
Populations
Cause Treatment
3. Down Syndrome
• Smaller head, decreased muscle tone,
flattened nose, delayed social and mental
development, (symptoms will vary)
• Chromosomal,
trisomy-21
• No treatment
4. Sickle Cell Anemia
• Hemoglobin protein made incorrectly; causes
sickled RBC; not enough Oxygen carried in
blood; pain episodes and joint swelling
• Genetic; autosomal codominant; heterozygote
has “trait” and is protected from malaria
• Treat symptoms
• Specific populations affected: Those of
African descent and Hispanics of Caribbean
descent. 1 in 12 African-Americans has trait; 1
in 500 births has disease
6. Hemophilia
• Blood clotting factor
protein is not made, so
individual will not stop
bleeding.
• Genetic; Sex-linked
recessive
• Males
• Give blood clotting
factor through IV.
http://www.ncbi.nlm.ni
h.gov/pubmedhealth/P
MH0001564/
7. Red-Green Colorblindness
• Cannot distinguish
between red and green
• Genetic, sex-linked,
recessive
• Males get more often
• No treatment
http://www.ncbi.nlm.nih.gov/
pubmedhealth/PMH000386
6/
8. Huntington’s Disease
• Brain cells waste away
(degenerate) causing
behavior and movement
changes and dementia in
30’s and 40’s (could start
younger).
• Genetic, autosomal,
dominant
• No specific populations
• None, can only slow down
symptoms
9. Cystic Fibrosis
• Unable to move salt across membranes which
allow a thick, sticky mucus to build up in
digestive and respiratory tracts; causes
infections in lungs, prevents digestion, and
imbalance of salt through sweating
• Genetic, autosomal recessive
• No specific populations
• Treatment: Chest physical therapy, inhalers, and
gene therapy
11. Tay-Sach’s Disease
• A fatty acid cannot be broken down, so it
builds up in nervous tissue. Symptoms
show at 3-6 months; death occurs
between 4-5 years.
• Genetic, autosomal, recessive
• Ashkenazi Jews inherit this more often(1
in 27 carry the gene)
• No treatment
12. Phenylketonuria
• Cannot break down the amino acid
phenylalanine leads to lighter hair and skin,
severe social and mental developmental delays,
and mousy odor.
• Genetic, autosomal recessive
• No specific populations
• A diet avoiding phenylalanine from birth will
prevent symptoms from developing. Foods to
avoid include milk, eggs, Nutrasweet, and
aspartame
13. Albinism
• Body doesn’t produce melanin, which
results in very pale skin, hair, eyes, etc.
Higher risk of sunburn and light sensitivity.
• Genetic, autosomal recessive.
• No specific populations.
• Treat symptoms by limiting sun exposure,
wearing sunscreen and sunglasses.
14. Adrenoleukodystrophy
• Disease affecting peroxisomes,
organelles that break down fatty
acids. Fat tissue builds up around
your brain and spinal cord.
• Genetic, X-linked recessive
• Treatments include dietary therapy,
stem cell transplants, and gene
therapy (somewhat effective)
• Featured in the movie Lorenzo’s Oil
15. Hereditary Deafness
• Hearing loss that is inherited by genetics.
Not all deafness is genetic.
• Since there are different types of
hereditary deafness, the inheritance
pattern varies.
• Hearing aid and other assistive devices,
but no cures.
16. Coffin-Lowry Syndrome
• People with Coffin-Lowry syndrome
experience abnormal growth and
development, and severe mental
retardation. Microcephaly
• Genetic, X-linked
dominant
• Treat symptoms
17. Achondroplasia
• Common cause of dwarfism.
• Genetic, autosomal dominant
• No treatments, but we
are researching
gene therapy.
18. Marfan Syndrome
• A disorder affecting
connective tissue.
People with Marfan
syndrome are unusually
tall and have long limbs.
• Genetic, autosomal
dominant.
• Treat symptoms.
19. Rett Syndrome
• Almost exclusively found in females,
results in mental retardation, seizures and
other neurological problems.
• Genetic, sex-linked
• No treatment currently, but possible gene
therapy.
20. Klinefelter Syndrome
• Disorder where males express feminine
characteristics and are frequently infertile.
• Chromosomal, XXY (trisomy)
• No cure, but symptoms can be treated
with testosterone.
21. Turner Syndrome
• Females express male features and often
have heart problems. They are almost
always infertile.
• Chromosomal, X (monosomy)
• No cure, but symptoms can be treated
with growth hormone and estrogen
therapy.