Exam 6: Chromosome Mutations: Variation in Number and Arrangement

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

(True/False)
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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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Assume that an organism has a haploid chromosome number of 7.There would be 14 chromosomes in a monoploid individual of that species.

(True/False)
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An expected meiotic pairing configuration in a triploid would be a trivalent.

(True/False)
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Name two methods used in genetic prenatal diagnostic testing in humans.

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Translocations may be pericentric or paracentric.

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The condition known as cri-du-chat syndrome in humans has a genetic constitution designated as ________.

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Trisomy 21,or Down syndrome,occurs when there is a normal diploid chromosomal complement but one (extra)chromosome 21.Although fertility is reduced 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 chromosome 21s)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?

(Multiple Choice)
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Nondisjunction is viewed as a major cause of aneuploidy.

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

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Although the most frequent forms of Down syndrome are caused by a random error,nondisjunction of chromosome 21,Down syndrome occasionally runs in families.The cause of this form of familial Down syndrome is ________.

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What is meant by the terms acentric and dicentric?

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Doubling the chromosomes of a sterile species hybrid with colchicine or cold shock is a method used to produce a fertile species hybrid (amphidiploid).

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Describe Bar mutations in Drosophila melanogaster.

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Given that a human normally contains 46 chromosomes,give the chromosome number for each of the following conditions: Turner syndrome (female,no Barr bodies) Klinefelter syndrome (male,one Barr body) triploid Down syndrome (trisomic) trisomy 13

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

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Trisomics are observed in humans; monosomics are not.Why?

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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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Familial Down syndrome is caused by a translocation involving chromosome 21.

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