• caused by a defective gene on chromosome
15
• rare disease that commonly affects the Eastern
Jewish population
• body lacks a protein that breaks down
gangliosides --> parts of the cellular membrane
• gangliosides build up in nerve cells found in the
brain and cause damage
• characterized by a red spot on a person’s retina
• symptoms include:
-loss of motor skills
-deafness
-decreased eye contact
-seizures
-paralysis
• child usually dies by age
• no cure
4 or 5
• caused by a defective gene on chromosome
•
30,000 children & adults in the U.S
70,000 worldwide
• characterized by an unusual sticky mucus
• affects the lungs and digestive system
40s
• median age of people with CF is mid• no cure
7
• caused by one of four
defective genes:
- TYR
- OCA2
- TYRP1
- SLC45A2
• characterized by a partial or complete loss
of melanin --> pigment that causes color in hair,
skin, and eyes
• caused by a defective gene on
chromosome
4
• 1 out of 10,000 in the U.S
• neurodegenerative disorder
• CAG triplet repeat causes a build up of the
huntingtin protein in the brain
30s
• symptoms usually appear in mid- mood swings,
- personality change,
- slurred speech,
- impaired judgement,
- involuntary movements
• no cure
• caused by a defective gene
on chromosome
4
• results in severely shortened
limb bones
• homozygous dominant
individuals are usually stillborn or die very early
• heterozygous individuals live a normal life
** remember females have XX and males have XY **
• recessive disorders typically affect males more
often than females because females usually have
dominant allele that will mask
• affected individuals have little to no clotting factor
• caused by defective genes on the X chromosome
that produce photpigments
• totally or partial color blindness
- blue yellow - red green
• caused by a duplication
mutation on the X chromosome
• causes mild to severe intellectual
disabilities
- similar to autism
• causes physical changes
- long narrow face
- large ears
- flat feet
-prominent jaw and forehead
• caused by a deletion mutation
5
on chromosome
• causes severe
intellectual disabilities
• causes physical changes
- low birth weight
- widely set eyes
- low muscle tone
- rounded face
• failure of homologous chromosomes to separate
during meosis
• affected girls are missing an entire sex
chromosome
• non-functioning ovaries
• no menstrual cycle
• sterile
• XO sex chromosome
• caused by a trisomy on
chromsome
21
• intellectual disabilities
- low IQ
- impaired senses
• physical characteristics
- small chin
- wide flat face
- slanted eyes
- short neck