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6 Cards in this Set
- Front
- Back
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What is Turner Syndrome?
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A germline chromosomal deletion in the X, giving rise to 45, XO genotype (99% abort spontaneously, but typically the only manifestation is decreased fertility and mild physical effects)
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What percentage of the human genome actually codes for genes?
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1.3%
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How do reciprocal and Robertsonian translocations differ?
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A reciprocal translocation will occur between the p or q arms of two different chromosomes. A Robertsonian, by contrast, is the fusion of the q arms of two acrosomal chromosomes (no/very little p arm coding repeats)
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What is the most likely negative outcome of a Robertsonian translation?
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Because it is balanced, this will typically result in a normal phenoype; however, the altered chromosome will make gamete formation difficult --> infertility
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Which chromosome carries the alpha globin gene?
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Chromosome 16
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Which chromosome carries the beta globin gene?
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Chromosome 11
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