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 gangliosides build up in nerve cells found in the brain and cause damage --> parts of the cellular membrane

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 4 or 5 no cure

caused by a defective gene on chromosome 7 30,000 children & adults in the U.S 70,000 worldwide characterized by an unusual sticky mucus affects the lungs and digestive system median age of people with CF is mid- 40 s no cure

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 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 chromosome 4

symptoms usually appear in mid- 30 s no cure - mood swings, - personality change, - slurred speech, - impaired judgement, - involuntary movements

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 - red green- blue yellow

caused by a duplication mutation on the X chromosome causes mild to severe intellectual disabilities causes physical changes - long narrow face - large ears -prominent jaw and forehead - flat feet - similar to autism

caused by a deletion mutation on chromosome 5 causes severe intellectual disabilities causes physical changes - low birth weight - low muscle tone - rounded face - widely set eyes

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 physical characteristics - low IQ - impaired senses - small chin - slanted eyes - wide flat face - short neck