Exam 8: Chromosome Mutations: Variation in Number and Arrangement

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An expected meiotic pairing configuration in a triploid would be a trivalent.

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Nondisjunction is viewed as a major cause of aneuploidy.

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In what way might gene duplication play a role in evolution?

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In 1970,Susumu Ohno proposed that gene duplication provides a way in which new genes arise.By duplicating a gene,the duplicated copy or the original gene is able to mutate without necessarily having an adverse influence on the phenotype.

Describe the maternal age effect associated with Down syndrome.

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Chorionic villus sampling (CVS)is sometimes preferred to amniocentesis because results can be provided earlier in the pregnancy.

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Recently,a gene located on chromosome 3 in humans,FHIT,has been shown to be associated with the significant human malady known as ________.

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Gene duplications provide an explanation for the origin of gene families.

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rDNA in eukaryotes is typically redundant.

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In general,inversion and translocation heterozygotes are as fertile as organisms whose chromosomes are in the standard arrangement.

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The chromosomal aberration that causes cri du chat syndrome can be referred to as a segmental deletion.

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What is meant by the terms acentric and dicentric?

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Trisomy 21,or Down syndrome,occurs when there is a normal diploid chromosomal complement but one (extra)chromosome 21.While there is reduced fertility in both sexes,females have higher fertility than males.Van Dyke et al.(1995; Down Syndrome Research and Practice 3(2):65-69)summarize data involving children born of Down syndrome individuals.Given the fact that conceptuses with 48 chromosomes (four #21 chromosomes)are not likely to survive early development,what percentage of surviving offspring would be expected to have Down syndrome if both parents have Down syndrome?

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Assume that a species has a diploid chromosome number of 24.The term applied to an individual with 25 chromosomes would be triploid.

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A position effect occurs when a gene's expression is altered by virtue of a change in its position.One might expect position effects to occur with inversions and translocations.

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In Drosophila melanogaster (2n = 8),a fly with seven chromosomes could be called a haplo-IV.

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The term aneuploidy is synonymous with the term segmental deletion.

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Colchicine is an alkaloid derived from plants.What is its effect on chromosome behavior?

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A pericentric inversion includes the centromere.

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Inversions and translocations are without evolutionary significance.

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Inversions suppress crossing over by providing a chemical imbalance because of breakpoints within certain genes.

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