Difference between revisions of "Cytogenetics Review Questions"

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==Unit 1==
==Lecture 1==
{{hidden| List the three broad categories of clinical indications for chromosomal analysis.|Prenatal, Constitutional, Cancer/Acquired}}
{{hidden| List the three broad categories of clinical indications for chromosomal analysis.|Prenatal, Constitutional, Cancer/Acquired}}
{{hidden|Which family members should have chromosomal analysis?|
{{hidden|Which family members should have chromosomal analysis?|
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{{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.}}
{{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==
==Lecture 2==
{{hidden|Describe the 4 steps of mitosis.|Prophase, metaphase, anaphase, telophase}}
{{hidden|Describe the 4 steps of mitosis.|Prophase, metaphase, anaphase, telophase}}
{{hidden|List the 8 steps of meiosis.|
{{hidden|List the 8 steps of meiosis.|
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{{hidden|What is the karyotype for a female infant with cri-du-chat?|46,XX,del(5)(p15.1)}}
{{hidden|What is the karyotype for a female infant with cri-du-chat?|46,XX,del(5)(p15.1)}}


==Unit 3==
==Lecture 3==
{{hidden|What is FISH?|FISH is a molecular cytogenetic technique in which flourescently labelled DNA probes are hybridized to metaphase spreads or interphase nuclei.}}
{{hidden|What is FISH?|FISH is a molecular cytogenetic technique in which flourescently labelled DNA probes are hybridized to metaphase spreads or interphase nuclei.}}
{{hidden|When is interphase FISH more helpful than metaphase?|Interphase FISH is particularly useful in samples where there is poor culture growth such as bone marrow or cancer tissue.}}
{{hidden|When is interphase FISH more helpful than metaphase?|Interphase FISH is particularly useful in samples where there is poor culture growth such as bone marrow or cancer tissue.}}
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{{hidden|How do CGH arrays work?|CGH arrays allow hundreds-thousands of probes to be used to compare the index and the reference genome, giving a complete chromosomal analysis that depends on the resolution of the probe.}}
{{hidden|How do CGH arrays work?|CGH arrays allow hundreds-thousands of probes to be used to compare the index and the reference genome, giving a complete chromosomal analysis that depends on the resolution of the probe.}}


==Unit 4==
==Lecture 4==
{{hidden|List 3 solid tumours for which cancer cytogenetics are currently used in prognosis and treatment.|
{{hidden|List 3 solid tumours for which cancer cytogenetics are currently used in prognosis and treatment.|
*1. Lymphoma
*1. Lymphoma
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*6) Radiosensitivity *tx with conventional radiation doses, could be fatal
*6) Radiosensitivity *tx with conventional radiation doses, could be fatal
*7) Cytogenetics: Chromosomal breakages, telomere instability, radiation sensitivity t(7;14)}}
*7) Cytogenetics: Chromosomal breakages, telomere instability, radiation sensitivity t(7;14)}}
{{hidden|What is Nijmegen Breakage Syndrome?|}}
{{hidden|What is Nijmegen Breakage Syndrome?|
{{hidden|What is Bloom syndrome?|}}
*1. microcephaly
*2. Bird like face
*3. Radiosensitivity
*4. rearrangements between 7 and 14, AR, rare NBS1(8q21.3)
*5. sensitive to x-rays and bleomycin
*6. Growth and mental retardation
*7. Ovarian failure
*8. Prone to b-cell lymphomas}}
{{hidden|What is Bloom syndrome?|
*AR inheritance, rare (1/160,000, BLM:15q26.1, SCE and quadrils
* growth retartdation/ short stature
* sun sensitivity / facial lesions
*Ashkenazi jews}}
{{hidden|What is Xeroderma pigmentosum?|}}
{{hidden|What is Xeroderma pigmentosum?|}}
{{hidden|What is Fanconi Anemia?|}}
{{hidden|What is Fanconi Anemia?|}}
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{{hidden|What lymphoproliferative disorders are associated with Down's Syndrome?|}}
{{hidden|What lymphoproliferative disorders are associated with Down's Syndrome?|}}
{{hidden|
{{hidden|
== Lecture 5 ==


==Miscellaneous==
==Miscellaneous==
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{{hidden|What is the most common outcome of a pregnancy when the parent has a balanced translocation?|Misscarriage}}
{{hidden|What is the most common outcome of a pregnancy when the parent has a balanced translocation?|Misscarriage}}


=== Unit 5 ==
 




==Peripheral Blood Culture and Harvest==
==Peripheral Blood Culture and Harvest==
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