Term
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Definition
| two genes, one from the Dad, one from Mom. a variation of a gene and the trait it controls. |
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Term
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Definition
| location of a trait on a gene |
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Term
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Definition
| aa, two of the same allele |
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Term
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Definition
| AA, two of the same allele |
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Term
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Definition
| Aa or aA. Two different types of alleles. |
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Term
| How many pairs of autosomes do we have? |
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Definition
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Term
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Definition
| they are chromosomes (genes) that do NOT control the sex of the human. |
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Term
| What are some things that an allele controls? |
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Definition
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Term
| How many chromosomes do sperm or an ovum have? |
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Definition
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Term
| what is the 23rd chromosome? |
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Definition
| They are sex chromosomes. they control the sex of the human. |
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Term
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Definition
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Term
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Definition
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Term
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Definition
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Term
| what are the 3 ways that a disorder/mutation occurs? |
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Definition
| single gene disorders, chromosomal disorders, multifactorial |
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Term
| What do autosomes affect? |
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Definition
| they are the only thing that affects enzymes and proteins. |
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Term
| autosomal dominant disorder |
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Definition
| 'A' is the abnormal gene. You can be affected when you are heterozygous. |
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Term
| t of f: autosomal dominant disorder can't skip generations |
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Definition
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Term
| how does the autosomal dominant disorder affect the occurance versus reccurance risk? |
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Definition
| occurance risk versus reccurance risk will always be the same |
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Term
| which sex is homologous and what sex isn't? |
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Definition
| Females are homologous (xx) and males are not (xy) |
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Term
| when do abnormal birth defects occur? |
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Definition
| during prenatal development |
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Term
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Definition
| a mutation that occurs in the absence in known mutations. They happen for no reason |
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Term
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Definition
| areas of the chromosomes that have high mutational rates. (ex, trisomy 21, occurs on chromosome 21) |
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Term
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Definition
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Term
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Definition
| the observable expression of a genotype in terms of morphogic, biochemical, and molecular. |
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Term
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Definition
| occur on the x chromosome and and usually recessive |
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Term
| chromosomal disorders happen during... |
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Definition
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Term
| how can we sually identify a potential single gene disorder? |
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Definition
| through the family genetic history |
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Term
| t or f, many automsomal dominant disorders are accompanied with a reduced ability to reproduce? |
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Definition
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Term
| in autosomal dominant disorder, even if you are heterozygous do you express the disorder? |
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Definition
| yes but less severely than if u were homozygous |
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Term
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Definition
| when a person inherites a dominant genetic disorder but fails to express it |
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Term
| what are 2 examples of autosomal dominant disorder? |
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Definition
| marfan's, huntingtons, neurofibro, hypocholesteroemia, osteogenesis |
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Term
| what is an example of variable expressivity? |
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Definition
| polydacty can be in either the toes or the feet and have varying numbers |
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Term
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Definition
| a varrying amount of toes or fingers |
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Term
| in autosomal dominant disorders, can an unaffected sibling pass on the gene? |
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Definition
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Term
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Definition
| the probability that the first child will be affected |
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Term
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Definition
| the probability that the second child will be affected |
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Term
| autosomal recessive disorder |
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Definition
| must be 'rr' and homozygous to express the disease. must have 2 recessive genes |
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Term
| t or f: in automsomal recessive, the child can have the disease if both parents are only carrier for the disease |
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Definition
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Term
| can an autosomal recessive disorder skip generations? |
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Definition
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Term
| cosanguinous breeding increases what? |
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Definition
| the chances of a recessive disorder |
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Term
| why do automsomal recessive disorder usually not show up in heterozygous carriers? |
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Definition
| their body can compensate for one gene not working and it can still create enzymes. however in homozygous disoders both alleles don't function and can produce NO ezyme production |
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Term
| what are some examples of automsomal recessive disorders? |
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Definition
| PKU, cystic fibrosis and tay sachs |
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Term
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Definition
| disorders on the x and are usually recessive |
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Term
| t or f: in x linked disoders females usually don't have the disorder but males are always affected |
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Definition
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Term
| an unaffected mother who carries the disease will have what affect on her son/daughter? |
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Definition
| The mother has a 50 percent chance of giving the affected gene to her sons (hald her eggs have a good gene, half have a good gene), and 50 percent chance of making her daughters carriers |
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Term
| what is an example of an x linked siorder? |
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Definition
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Term
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Definition
| when a part of a chromosome reloactes to another part of the chromosome |
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Term
| how is a sperm haploid and why do they become diploid? |
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Definition
| a sperm or ovum only has 23 chromosomes, when the sperm meets an egg it's DNA joins with the egg and it has 46 chromosomes. |
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Term
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Definition
| a change in the number of chromosomes numbers. |
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Term
| what is an example of autosomal aneuploidy? |
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Definition
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Term
| what are two examples of sex chromosome aneuploidy? |
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Definition
| turner syndrome and slinefelter syndrom. |
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Term
| true or false: it's better to have more than less |
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Definition
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Term
when does non dysjunction occur?
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Definition
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Term
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Definition
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Term
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Definition
| one copy of a chromosomes |
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Term
| monosomy of an automsome will result in... |
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Definition
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Term
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Definition
| affects the connective tissue and fibrinilin. no cure. |
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Term
| symptoms of marfans disorder |
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Definition
| long extremities. bad eyes, heart. rupture of aorta,mitral valve prolapse, dislocation of eye lenses. |
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Term
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Definition
| bening tumors from schwann cells of PNS. 2 types. |
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Term
| what do both types of neurofibramatosis come from? |
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Definition
| genetic defect in tumor supressor gene that regulated cell differentiation and growth |
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Term
| what are the two types of neurofibromatosis? |
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Definition
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Term
| what chromosome has nf-1 been linked to? |
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Definition
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Term
| what chromosome has nf-2 been linked to? |
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Definition
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Term
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Definition
| has tons of tumors on the body. form disfugurement. they get a lot of cafe au lait spots |
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Term
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Definition
| tumors of the acoustic nerve. headaches, tinnitus, hearing loss. |
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Term
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Definition
| defficiency of the liver. metabolic disorder. phenylanimine builds up in blood |
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Term
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Definition
| mental retardation, delayed speech, and other neurologic problems |
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Term
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Definition
| failure to break down glangiocydes. destruction of neurons. |
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Term
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Definition
| weakness, no attention at 6 months, siezures, blindness. death at 4 or 5. |
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Term
| what helps us identify tay sachs? |
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Definition
| the blood lacks hexosaminidase |
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Term
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Definition
| low nasl bridge, protruding tongue, not tall,risk increases with maternal age. |
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Term
| what are risk factors for children with down syndrome? |
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Definition
| acute leukemia, alzhiemers, congential heart defects, and GI malformations |
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Term
| occurance risk of down syndrome |
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Definition
| increases with maternal age |
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Term
| reccurance risk of down syndrome |
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Definition
| we are unable to calculate it |
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Term
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Definition
| only 1 functioning x chromosome due to father. no secondary sex characteristics |
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Term
| what are the clinical manifestations of turner's syndrome? |
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Definition
| no breats, no ovaries, no periods, edema, short, webbing of the neck |
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Term
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Definition
| 3 x chromosomes. symptoms worsen with each extra x. |
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Term
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Definition
| XXY. male appearance, female breats, small testes, no body hair, long limbs |
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Term
| why do we get XXY in kleinfelter's syndrome? |
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Definition
| due to ondisjuction of mother (2/3) or father (1/3). age is not a huge contributing factor |
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Term
| how can we help treat kleinfelters syndrom? |
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Definition
| although most are asymptomatic, injections of testoterone help out a lot. |
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Term
| what are some toher variations of kleinfelters? |
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Definition
| XXXXY or XXXY. abnormalities increase with each x |
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Term
| what is an example of a multifactorial disorder? |
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Definition
| cleft lip and cleft palate |
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Term
| what is the recurrance risk of a multifactorial disorder? |
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Definition
| it increases the more that one family member is affected. |
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Term
| multifacotiral inheritiance tends to include... |
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Definition
| a single organ or tissue that is involved. |
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Term
| how much DNA is in mitochondrial DNA? |
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Definition
| 37 genes. 2 ribosomal RNA, 22 tranfer RNA, and 13 structural genes. |
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Term
| are people with kleinfelters syndrom able to have kids? |
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Definition
| usually no, they have a low sperm count. |
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Term
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Definition
| disorders that include the genetics and enviornment |
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Term
| down syndrome patients have how many chromosomes versus the normal 46? |
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Definition
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