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Published byKerry Woods Modified over 9 years ago
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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
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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
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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
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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
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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
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symptoms usually appear in mid- 30 s no cure - mood swings, - personality change, - slurred speech, - impaired judgement, - involuntary movements
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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
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** 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
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affected individuals have little to no clotting factor
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caused by defective genes on the X chromosome that produce photpigments totally or partial color blindness - red green- blue yellow
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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
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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
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failure of homologous chromosomes to separate during meosis
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affected girls are missing an entire sex chromosome non-functioning ovaries no menstrual cycle sterile XO sex chromosome
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caused by a trisomy on chromsome 21 intellectual disabilities physical characteristics - low IQ - impaired senses - small chin - slanted eyes - wide flat face - short neck
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