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Study for Science!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!…

Hurler's Syndrome

missing enzyme that breaks down long chains of sugar molecules; large head, mental retardation, heart and hearing problems, deformed bones, short stature

Cri Du Chat Syndrome

crying infants sound like a cat; some have mental retardation; trouble moving, difficulty swallowing, difficulty pronouncing words, sometimes heart defects

Klinefelter's Syndrome

boys get extra X chromosome; tend to be shy, weak muscles, not as much facial hair

Prader-Willi Syndrome

hunger cannot be satisfied, laziness, sleeps too much, mild mental retardation, skin problems

Duchenne's Muscular Dystrophy

sex linked trait, weak muscle mass, in wheelchair by 12, sceleton deformities

Sanfilippo Syndrome

disorder of metabolism, long sugar chains don't get broken down but get get stored which damages the body; mental deterioration, physical defects, behavioral problems

Tay-Sachs Disease

occurs mainly in Jews, babies are normal a birth, devolop mental retardation and blindness; die a 5 or 6

Albinism

no pigment produced in skin, red, jittery eyes, white hair

Rett Syndrome

mostly in girls, normal development until age 6-18 months, small head, hands, and feet, curved spine, end up in wheel chair

Huntington's Disease

no symptoms until adulthood, neurons in brain are destroyed, physical as well as psychiatric symptoms

Marfan Syndrome

long arms and legs, bony fingers, tallness, weak aorta

Long QT Syndrome

problems with heart's electrical signal, long distance between the Q and T waves during a heartbeat, possibility of death due to heart attack

Fragile X Syndrome

symptoms are different for girls and boys, girls have trouble with math, boys have trouble with speech and language, memory and IQ deteriorate

Hemophilia

missing blood clotting factor, could bleed to death, sex linked mutation

Cystic Fibrosis

produces thick mucus which enters the lungs, deletion mutation, must be inherited by both parents, salty tasting skin

Sickle Cell Anemia

affects amount of hemoglobin, occurs mostly in African-Americans, 1 good gene and 1 bad one: could still get it, codominant, sickle shaped red blood cells: don't absorb as much oxygen/ don't live as long 20 days to 120 days

Down Syndrome

21st Chromosome pairing is a triplet (trisomy); caused when a chromosome doesn't separate from its partner during meiosis (nondisjunction); mental retardation; person is a little short and a little chubby

Achondroplasia

dwarfishness

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