Genetic Disorders
Pattern of inheritance:
Dominant
Achondroplasia
A type of dwarfism
Symptoms: Short stature, shortened arms and legs,
trident-shaped hand
Pattern of inheritance: Dominant
Huntington’s Disease
Progressive breakdown of nerve cells in the brain, resulting in deterioration of
mental and physical abilities
Symptoms: Do not show until age 30-50; memory lapses, depression,
clumsiness, mood swings, difficulty concentrating, slurred speech
Pattern of inheritance: Dominant
Pattern of inheritance:
Recessive
Sickle-cell Anemia
Red blood cells are sickled, which causes
them to build up, not carry enough oxygen,
and die off more quickly than normal red
blood cells
Symptoms: Anemia, swelling, pain, delayed
growth, vision problems, infections
Pattern of Inheritance: Recessive
Cystic Fibrosis
Mucus covers inside of lungs and other
organs
Symptoms: Persistent coughing, lung
infections, wheezing, poor weight gain
Inheritance Pattern: Recessive
Albinism
Condition where the skin, hair, or eyes to
have little or no color.
Symptoms: Absence or light color in the hair,
eyes, and skin; vision problems including
crossed eyes, light sensitivity, and blindness.
Sensitive to the sun and UV rays.
Pattern of inheritance: Recessive
Pattern of inheritance:
Sex-linked
Hemophilia
Blood does not clot
Symptoms: Excessive bleeding, nosebleeds,
large or deep bruises
Inheritance pattern: Sex linked
Color-blindness
Symptoms: Unable to distinguish between colors,
or unable to see color.
Multiple types depending on which cells are missing:
Red-green, blue-yellow, or complete color blindness
(monochromacy)
Pattern of inheritance: Sex linked
https://www.color-blindness.com/coblis-color-blindness-simulator/
Nondisjunction
Turner’s Syndrome
Monosomy of the X chromosome; only affects females
Symptoms: Shorter stature, wide neck, low set ears, puffy hands and feet,
infertility
Only occurs in females
Occurs because of nondisjunction
Kleinfelter’s Syndrome
A male with 2 X chromosomes (a.k.a. XXY)
Symptoms: Weak muscles, long legs/taller
stature, enlarged breast tissue, delayed, absent,
or incomplete puberty, infertility
Only occurs in males
Occurs due to nondisjunction
Down’s Syndrome
Trisomy of the 21st chromosome
Symptoms: Slanted eyes, small stature, short
neck, intellectual disabilities
Occurs due to nondisjunction
Closure
Infer: Why don’t we have cures for many genetic diseases?