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18 terms

Genetic Diseases

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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