Term
| This refers to the loss of a piece of a chromosome |
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Definition
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Term
| Where do deletions occur the most? |
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Definition
| In crossing over of meiosis |
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Term
| This results in a missing gene due to a piece of the chromosome missing |
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Definition
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Term
| What two things can be used to diagnose a deletion? |
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Definition
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Term
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Definition
| The (-) are genes that are located on a recessive allele, while the (+) are genes on a dominant allele. In the good wildtype chromosome, it is homozygous dominant so it does not express the disorder however the mutant homozygous recessive chromosome does express the disorder. Normally when these two pair up, the children would be carriers but would not express the abnormality, however after a deletion occurs in the wildtype chromosome on one of the alleles, some of the dominant genes are removed so after genetic recombination 50% of the children will be carriers and the other 50% will express some of the abnormal genes (the ones that corresponds to the genes that were deleted) |
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Term
| True or false, unequal crossing over can cause deletions & duplications |
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Definition
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Term
| This is the term given when there is an extra portion on a allele |
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Definition
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Term
| This is a duplication of a section of a chromosome, and is sometimes refered to as a partial trisomy |
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Definition
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Term
| This is a chromosome in ring form without the telomeres |
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Definition
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Term
| True or false, ring chromosomes are not problematic |
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Definition
| False, ring chromosomes can become problematic when the cell divides and can cause problems for the individual |
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Term
| This is an abnormal process where the exchanging of genetic material in a somatic cell occurs between 2 non homologous chromosomes |
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Definition
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Term
| True or false, in balanced (reciprocal) translocations the same amount of genetic material is not transferred |
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Definition
| False, it is balanced so the same amount is transferred |
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Term
| Is the same amount of genetic material passed normally during translocations? |
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Definition
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Term
| Translocations that occur between chromosomes 9 and 22 produces a malignancy called what? |
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Definition
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Term
| This is a common form of chromosomal rearrangement that in humans occurs in the five acrocentric chromosome pairs (13, 14, 15, 21, 22) |
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Definition
| Robertsonian Translocation |
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Term
| This is a type of nonreciprocal translocation where two nonhomologous acrocentric chromosomes (chromosomes that are not members of the same pair and have centromeres located at there ends) break at their centromeres |
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Definition
| Robertsonian Translocation |
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Term
| True or false, an inversion consists of three breaks in one chromosome |
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Definition
| False, an inversion consists of two breaks in one chromosome not three |
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Term
| This is the term given to an inversion that occurs around the center of a chromosome |
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Definition
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Term
| This is the term given to inversions that occur away from the center of a chromosome |
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Definition
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Term
| This can reveal chromosome deletions, translocation or other abnormalities |
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Definition
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Term
| This is a powerful and versatile tool for the detection and localisation of nucleic acids in fixed materials such as cells |
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Definition
| Fluorescent In Situ Hybridization (FISH) |
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Term
| True or false, FISH can diagnose microdeletions |
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Definition
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Term
| True or false, karyotyping can be used to diagnose microdeletions |
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Definition
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Term
| This test is specific, in it you are looking for something that you know may or may not be present |
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Definition
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Term
| Which test is more difficult to interpret FISH or a Karyogram? |
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Definition
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Term
| Which test is easier to perform FISH or a Karyogram? |
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Definition
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Term
| Which test takes a longer time to complete, FISH or a karyogram? |
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Definition
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Term
| What are some disadvantages of FISH? |
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Definition
1. FISH can only analyze or the region of the genome that corresponds to the probe
2. There is a limited availability of probes |
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