Genetic disorder (general), Caused by inherited faulty genes · Dominant or recessive · Severity varies by pattern (e.g. sickle cell) · Treatment depends on disorder, Mutation, Sudden change in gene structure · Spontaneous or from radiation/toxins · Usually harmful, occasionally beneficial · Manage resulting conditions, Huntington disease, Dominant · Degenerative brain disorder affecting coordination & cognition · No cure; death 10–20 yrs after onset, Cystic fibrosis, Recessive · Thick sticky mucus clogs lungs & digestive system · Bronchial drainage, diet, gene replacement therapy, Phenylketonuria (PKU), Recessive · Can't digest phenylalanine; untreated → neurological damage & death · Managed by diet, Sickle cell anemia, Recessive · Sickled RBCs → poor oxygen delivery, organ damage · No cure; transfusions, treat infections, marrow transplant, Tay-Sachs disease, Recessive · Degenerative brain disease · No treatment; most die by age 4, Colour blindness, X-linked · Difficulty distinguishing red from green · No cure · 1 in 12 males, Duchenne muscular dystrophy, X-linked · Weakness & wasting of limb/trunk muscles · Physical therapy, braces; survival rare beyond late 20s, Fragile X syndrome, X-linked · Cognitive impairment, attention/anxiety issues, long face, large ears · No cure, Hemophilia, X-linked · Blood does not clot · Blood transfusions, Down syndrome (Trisomy 21), Extra chromosome 21 · Physical & cognitive differences · Supportive care, Turner syndrome (XO), Missing X · Short stature, webbed neck, delayed puberty, infertility · 1 in 2,500 females, Triple X (XXX), Extra X · Taller with long legs, normal sexual development & fertility · Often unnoticed, Klinefelter (XXY), Extra X in males · High-pitched voice, short stature, feminine body shape, infertility · 1 in 1,000 males, Jacob's syndrome (XYY), Extra Y · Associated with high testosterone · Often unnoticed
0%
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