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Mutations

QuestionAnswer
Trisomy 21 Downs; almond-shaped eyes, flattened face, short
Trisomy 18 Edward; facial abnormalities, extreme muscle tone, early death
Trisomy 13 Patau; organ defects, large triangular nose, early death
XXY Kleinefetter; sexual immaturity, breast swelling
XYY Jacob; typically no symptoms, some are taller
XXX Triple X; tall and thin, menstrual irregularity
XO Turner; short stature, sexually underdeveloped
Autosomal Dominant males + females are equally likely to be affected; traits do not skip generations
Autosomal Recessive males + females are equally likely to be affected; may skip a generation; parents may be unaffected
X-Linked Dominant all daughters of an affected father will be affected; no father --> son transmission
X-Linked Recession affects more males than females, no father --> son transmission
Y-Linked all sons of an affected father will be affected
Created by: spock!
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