Difference between revisions of "Cytogenetics Review Questions"

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{{hidden|What is SCE (Sister chromatid exchange?|SCE (sister chromatid exchange) is the interchange of homologous segments between two chromatids of one chromosome, grow the cells under special conditions to produce a differential staining of sister chromatids.}}
{{hidden|What is SCE (Sister chromatid exchange?|SCE (sister chromatid exchange) is the interchange of homologous segments between two chromatids of one chromosome, grow the cells under special conditions to produce a differential staining of sister chromatids.}}
{{hidden|What is DAPI staining?|DAPI staining produces bright fluorescence of the heterochromatin regions of 1,9,16, and Y, as well as the centromere of 15, and is used to id marker chromosomes or translocations of Y.}}
{{hidden|What is DAPI staining?|DAPI staining produces bright fluorescence of the heterochromatin regions of 1,9,16, and Y, as well as the centromere of 15, and is used to id marker chromosomes or translocations of Y.}}
{{hidden|Explain how chromosomal breakage studies are used to diagnose Fanconi's anemia.| Cultured cells are treated with DEB (Diepoxybutane) or mitomycin C to induce breakage, those cells with chromosomes prone to breakage are especially susceptible and this can be seen as gaps, breaks, deletions, triradial, quadriradial, dicentric, and complex figure in the metaphase.}}
{{hidden|Explain how chromosomal breakage studies are used to diagnose Fanconi's anemia.|Cultured cells are treated with Diepoxybutane, or mitomycin C to induce breakage, those cells with chromosomes prone to breakage are especially susceptible and this can be seen as gaps, breaks, deletions, triradial, quadriradial, dicentric, and complex figure in the metaphase.}}


==Unit 2==
==Unit 2==
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*2. Breast cancer
*2. Breast cancer
*3. Bladder carcinoma}}
*3. Bladder carcinoma}}
{{hidden|What is a chromosomal instability syndrome?| There are several rare single-gene syndromes in which there is a characteristic cytogenetic abnormality; affected individuals exhibit elevated rates of chromosome instability, leading to chromosomal rearrangements.}}
{{hidden|What is a chromosomal instability syndrome?|There are several rare single gene syndromes in which there is a characteristic cytogenetic abnormality; affected individuals exhibit elevated rates of chromosome instability, leading to chromosomal rearrangements.}}
{{hidden|What are the features of ataxia telangiectasia?|
{{hidden|What are the features of ataxia telangiectasia?|
*1) AR inhertiance 1/40,000, ATM:11q22.3-q23.1
*1) AR inhertiance 1/40,000, ATM:11q22.3-q23.1
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*9. Aspirate off colcemid  
*9. Aspirate off colcemid  
*10. Add hypo (1/2 0.54 KCl, 1/2 0.75 NaCitrate) x 30 min
*10. Add hypo (1/2 0.54 KCl, 1/2 0.75 NaCitrate) x 30 min
*11. Add 2mL of fix (1/3 Methanol, 1/3  
*11. Add 2mL of fix (1/3 Methanol, 1/3 }}


{{hidden|What is Allerdice or Sandy Point Syndrome?|It is a chromosomal disorder discovered in Sandy Point, NL by Dr. Penny Allderdice, inv(3)(p25q21) characterized by affected offspring with multiple congenital anomalies with surviving children exhibiting severe growth and developmental delays.}}
{{hidden|What is Allerdice or Sandy Point Syndrome?|It is a chromosomal disorder discovered in Sandy Point, NL by Dr. Penny Allderdice, inv(3)(p25q21) characterized by affected offspring with multiple congenital anomalies with surviving children exhibiting severe growth and developmental delays.}}
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