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*Made of trillion of cells *Each cell has a nucleus *Each nucleus has one specific chromosome pair *Each chromosome has DNA *DNA is a double helix |
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an ordered display of chromosomes |
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cells with multiple of the normal number of chromosomes. |
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when a euploid cell has more than a the diploid number of chromosomes. *some liver, bronchial, and epithelial tissues normally. |
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a cell that does not contain a multiple of 23 chromosomes 1 in 500 live male births *3 copies of one chromosome- trisomy 1 in 900 live female births |
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The outward appearance of an individual, which is the result of both genotype and environment. |
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The composition of genes at a given locus |
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when two alleles are identical |
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when alleles are not identical |
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the allele whose effects are observable |
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the allele whose effects are hidden |
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illustrated the distribution of traits based on homozygous or heterozygous alleles. |
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Trisomy of chromosome 21 IQ- 20-70 (metal retardation) Virtually all males are sterile, some females can reproduce *low nasal bridge, epicanthal folds, protruding tongue, low-set ears *poor muscle tone(hypotonia), short *Congenital heart disease, reduced ability to fight resp infect, increase chance of leukemia, reduced survival rate. by 40 usually develop alzheimers sypm. *76% of fetus' abort spontaneously or are stillborn, 20%infants die before 10; life expectancy of about 60 *97% caused by nondisjunction |
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(45,X) Monosomy of X chromosome *Found only in females short stature, webbing of neck, widely spaced nipples, reduced carrying angle at elbow *Coarctation (narrowing) of aorta, edema of feet in newborns, usually sterile, lack of ovaries *Most common single-chromosome aberration *only .5% survive from conception *caused by meiotic error in father |
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(47,XXY) XXY Condition *Moderate degree of mental impairment *Have male appearance but usually sterile; 50% develop gynecomastia *occurs in 1:1000 male births *Voice somewhat high pitched *Sparse body hair, small testicles *50% of cases result of nondisjunction of X chromosomes in mother, frequency rises with increasing maternal age |
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at a given locus, an individual has one whose origin is paternal and one whose origin is maternal. |
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