Exam 6: Cytogenetics - Karyotypes and Chromosome Aberrations

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If nondisjunction occurs during meiosis I,____.

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E

The FRAX A site near the tip of the long arm of the X chromosome is associated with a form of intellectual disability known as Martin-Bell syndrome,or ____________________.

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fragile-X syndrome
fragile-X

Define the term translocation and describe the two major types and their phenotypic consequences.

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Translocations move part of a chromosome to another,nonhomologous chromosome.There are two major types of translocations: reciprocal translocations and Robertsonian translocations.In a reciprocal translocation,two nonhomologous chromosomes exchange parts.No genetic information is gained or lost from the cell in the exchange,but genes are moved to new chromosomal locations.In some cases,there are no phenotypic effects,and the translocation is passed through a family for generations.Robertsonian translocations can produce genetically unbalanced gametes with duplicated or deleted chromosomal segments that can result in embryonic death or abnormal offspring.

Leukemia is often associated with chromosomal translocations.

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The major physical symptom associated with Klinefelter syndrome is ____.

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Down syndrome can be caused by either trisomy 21 or a Robertsonian translocation.

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About ____ percent of all newborns are affected with an abnormal karyotype.

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The karyotype designation for an infant with a deletion in the short arm of chromosome 5 (cri du chat syndrome)is ____________________

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A chromosome whose centromere is placed very close to,but not at,one end is called a(n)____________________ chromosome.

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A chromosome that has a centrally-placed centromere is called ____________________.

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Deletion of an entire autosome ____.

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Part of a chromosome moves to another,nonhomologous chromosome during ____________________.

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Describe two processes that would result in a triploid zygote.

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The most common type of polyploidy in humans is ____.

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The letters G,Q,R,and C,used to describe the appearance of chromosomes,refer to the ____.

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One technique for chromosome analysis is called ____________________,which uses chromosome-specific DNA sequences attached to fluorescent dyes to target specific chromosomal regions.

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Explain why geneticists believe that almost all chromosomally abnormal embryos and fetuses are eliminated as pregnancy progresses.

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Trisomy 21 is the only autosomal trisomy that allows survival into adulthood.

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Viral infections are not considered a risk factor for autosomal trisomy because a virus cannot affect human chromosome arrangement.

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One important difference between amniocentesis and chorionic villus sampling is that ____.

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