Exam 6: Cytogenetics - Karyotypes and Chromosome Aberrations

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Explain how the terms diploid and haploid relate to human chromosome number in both autosomes and sex cells.

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About ____ percent of children with Down syndrome are severely intellectually disabled.

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Submetacentric describes a chromosome whose telomeres are attached to the centromeres.

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Fragile sites appear as ____________________ or ____________________ at specific sites on a chromosome.

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List at least three types of information provided by a karyotype and interpret the chromosomal structural abnormality written as 46,XX,t(18q).

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More than ____ percent of couples decide to terminate a Down syndrome pregnancy.

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A condition in which both copies of a chromosome are inherited from one parent is called ____________________.

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Chromosomes are usually studied and photographed while they are in anaphase of mitosis.

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Karyotypes prepared from chorionic villus cells can be used to identify many ____________________ abnormalities.

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There are no cases of -XX or Y individuals,but X individuals do exist.Propose an explanation for this statistic.

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The risk for Down syndrome increases ____.

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One possible explanation for why ____________________ is a primary risk factor for autosomal trisomy is that oocytes remain in meiosis I until ovulation,which could take place many years after birth,making them more susceptible to damage.

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Spindle fibers attach to the ____ of a chromosome during cell division.

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Turner syndrome is not associated with intellectual disability.

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Amniocentesis is not performed on mothers over the age of thirty-five.

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Approximately 40% of all children with Down syndrome have congenital ____________________ defects.

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When constructing a karyotype,the chromosome images are arranged in pairs according to ____________________ and ____________________.

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Define the terms triploidy and autosomal trisomy and describe characteristics and consequences of each genetic disorder.

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A deletion in the short arm of chromosome 5 is associated with ____ syndrome,which causes intellectual disability,defects in facial development,and an abnormal larynx.

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Researchers have suggested that all live-born infants with Turner syndrome are actually ____________________,with both 46,XX and 45,X cells present in their bodies.

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