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Pathophysiology
Ch2 Genetics Terminology
11
Health Care
Undergraduate 2
09/05/2008

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Term
heterozygous
Definition
containing non-identical maternal and paternal genes
Term
mutation
Definition
inherited alteration of genetic material
Term
homozygous
Definition
containing identical maternal and paternal genes
Term
monosomy
Definition
presence of one copy of a given chromosome in diploid cell.
Term
penetrance
Definition
percentage of those exhibiting and expressed phenotype.
Term
tumor-suppressor gene
Definition
substance responsible for retinoblastoma
Term
haploid cell
Definition
gamete
Term
carrier
Definition
normal phenotype with disease gene
Term
phenotype
Definition
outward appearance resulting from environment
Term
recombination
Definition
allele pair formation in crossover
Term
trisomy
Definition
three copies of a chromosome
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