Exam 6: Cytogenetics: Karyotypes and Chromosome Aberrations

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Studies on aneuploidies of the sex chromosomes reveal that

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The short arm of a submetacentric chromosome is symbolized as the ____________________ arm.

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Describe the chromosomal constitution of the four cells of meiosis if a nondisjunction event occurred in Anaphase I.

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People with the chromosome constitution ____________________ were once considered more genetically predisposed to committing violent crime than those with a normal chromosome constitution.

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The letters G, Q, R, and C are used to describe bands that appear on chromosomes. The letters refer to

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The region at the end of a chromosome is termed the _______.

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The reason for the spontaneous abortion of almost all 45, X fetuses is unknown.

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Due to a chromosome deletion, Timothy is very retarded, both physically and mentally. He also has a severe abnormality of his voice-box so that his cry is abnormal. Give the karyotypic designation and the name of the syndrome that he most likely has. ____________________

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Characterize the frequency of changes in chromosome number in humans.

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Which of the following is an enzyme used in G-banding?

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If a mother already has a child with chromosomal abnormalities, the risk of having another child with chromosomal abnormalities is 10 percent.

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Distinguish between: a. Trisomy 13 and trisomy 18 b. Triploidy and tetraploidy c. Angelman syndrome and Prader-Willi syndrome

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Show how the frequencies of many chromosome abnormalities are different in newborns than they are in fetuses.

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The most common survival trisomy is trisomy 13.

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Klinefelter syndrome patients who are mosaics have some cells with 46, XY and others with ____________________.

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Most triploid zygotes arise from

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How does polyploidy differ from aneuploidy?

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What chromosomal mutation occurs in each of the following: Patau syndrome, Klinefelter syndrome, Turner syndrome, and Angelman syndrome?

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Turner syndrome is associated with severe mental retardation.

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Which of the following is not information derived from karyotypes?

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