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6 Cards in this Set
- Front
- Back
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BIOCHEM 29 - MEND INH PAT Dx
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BIOCHEM 29 - MEND INH PAT Dx
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Hypophosphatemia
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-RICKETTES Dz.
-X-LINKED DOMINANT. -Two pedigrees checking for the Dz and PHOSPHATE LEVELS IN BLOOD. |
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Hemophilia A
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-X-LINKED RECESSIVE.
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Camptodactyly
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-X-LINKED DOMINANT.
-Shortening of 5th digit -Possesses REDUCED PENETRANCE (can be present on left, right or both hands). -NON-PENETRANCE means the allele is present w/o the phenotype. |
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Osteogenesis Imperfecta
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-Autosomal DOMINANT.
-AKA "Brittle Bone Disease". -Possesses REDUCED PENETRANCE. -Possesses VARIABLE EXPRESIVITY. |
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Deaf-Mutism
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-Autosomal RECESSIVE.
-Possesses HETEROGENEITY (LOCUS HETEROGENEITY in particular). |
