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Exam 6: Chromosome Mutations: Variation in Number and Arrangement

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Question 1

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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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Question 2

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Familial Down syndrome can be caused by a translocation between chromosomes 1 and 14.

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Assume that a species has a diploid chromosome number of 24.The term applied to an individual with 36 chromosomes would be triploid.

A pericentric inversion includes the centromere.

Clearly illustrate the pairing configuration of an inversion (paracentric)heterokaryotype.

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

What explanation is generally given for lethality of monosomic individuals?

Under what circumstance can an individual with Down syndrome have 46 chromosomes?

The condition that exists when an organism gains or loses one or more chromosomes but not a complete haploid set is known as ________.

Fragile-X syndrome (or Martin-Bell syndrome)is the most common form of inherited mental retardation in humans.Is it more common in males or females? What is FMR1?

A paracentric inversion is one whose break points do not flank the centromere.

An individual with Patau syndrome would be called a triploid.

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 rates 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.Assume that children are born to a female with Down syndrome and a normal 46-chromosome male.What proportion of the offspring would be expected to have Down syndrome?

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

A genomic condition that may be responsible for some forms of fragile-X syndrome,as well as Huntington disease,involves ________.

Inversion heterokaryotypes are often characterized as having reduced crossing over and reduced fertility.Assume that you were examining a strain of organisms you knew to be inversion heterokaryotypes and saw a relatively high number of double chromatid bridges extending between anaphase I nuclei.What would be a likely explanation for this observation? Explain with a labeled diagram.

Assume that an organism has a diploid chromosome number of 14.There would be 28 chromosomes in a tetraploid.

Inversions and translocations are without evolutionary significance.

A deletion may set up a genetic circumstance known as overdominance.

rDNA in eukaryotes is typically redundant.