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Genetics in Medicine

Medicine

Quiz 5 :

Principles of Clinical Cytogenetics and Genome Analysis

Quiz 5 :

Principles of Clinical Cytogenetics and Genome Analysis

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What is needed in determining to assess whether a nondisjunction event occurred at meiosis I or meiosis II?
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B

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Which of the following are possible causes of Angelman syndrome?
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E

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To be stable, a rearranged chromosome must have which of the following?
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B

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When two or more chromosome complements can be found within an individual, this is known as:
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From largest to smallest, put these techniques in order in terms of the size of the genetic abnormality each could detect. I. Comparative genome hybridization II) G-banding III) Allele specific oligonucleotide hybridization IV) Fluorescent in situ hybridization (FISH)
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If a single, 23X sperm fertilizes an ovum that lacks a nucleus, and its chromosomes double to yield a 46XX karyotype, what is the outcome?
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The inability of one copy of a gene to perform the function of the normal two copies of the gene is known as:
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What type of chromosomal aberration is indicated by the following cytogenetic abbreviation: 46,XX, t(1;2)(q25;p23)?
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Which of the following is not seen in a normal human karyotype?
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Which of the following is the most common cause of chromosomal aneuploidy?
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Cells are arrested at which stage of the cell cycle for use in routine karyotyping?
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Which term is used to describe differences in gene expression based on the parent of origin of an allele?
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This type of chromosome has satellites attached to their short arms by stalks.
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To do high resolution banding of chromosomes, what change to the procedure must be made relative to normal G-banding?
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What is the term used for a chromosome in which one arm is deleted and the other arm is duplicated in a mirror image fashion?
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Without taking into account the likelihood of each type of segregation, what portion of the possible 2:2 segregation products resulting from meiosis in a carrier of a balanced translocation will be normal?
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