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14 Cards in this Set
- Front
- Back
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Mutation in sickle cell
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missense (causes valine to replace glutamate)
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Mutation seen in beta-thalassemia major
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nonsense mutation with stop codon
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mutation seen in Tay-sachs
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frameshift
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most AR disorders involve
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enzyme def.
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enzyme def in von gierke's
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glucose-6-phosphatase def
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most common AR disorder
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hemochromatosis
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most common AD disorder
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von Willebrand disease
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most common x-linked disorder
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fragile X
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mosaicism
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Nondisjunction in mitosis
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Hormone levels in Klinefelter's
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decreased testosterone and inhibin --> increased LH and FSH, respectively
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most common pathogen causing a congenital infection
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CMV
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stillbirth most often caused by
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abruptio placentae (premature separation of the placenta b/c of a retroperitoneal blood clot)
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spontaneous abortion frequently caused by
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trisomy 16
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Large for gestational age most ofen due to
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maternal diabetes
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