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Cytogenetics Review Questions (view source)
Revision as of 15:55, 5 August 2015
, 15:55, 5 August 2015→Miscellaneous
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== | ==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.}} | ||
== | ==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)}} | ||
== | ==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.}} | ||
== | ==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 cause of triploidy?|Dispermy in 60%}} | {{hidden|What is the most common cause of triploidy?|Dispermy in 60%}} | ||
{{hidden|What is the recurrence risk for parents of Down's syndrome child with a "free chromosome"?|1%}} | {{hidden|What is the recurrence risk for parents of Down's syndrome child with a "free chromosome"?|1%}} | ||
{{hidden|List 5 features of Trisomy 8.| | |||
*1. Prominent cup-shaped ears | |||
*2. Prominent lips | |||
*3. Somewhat prominent forehead | |||
*4. IQ usually 45 to 75 but some have near normal intelligence | |||
*5. Deep, longitudinal grooves on soles of feet | |||
*6. Joint abnormalities | |||
*7. Usually mosaic }} | |||
{{hidden|List 5 features of Trisomy 9.| | |||
*1. Growth deficiency (prenatal) | |||
*2. Deep-set eyes | |||
*3. Low-set, misshapen ears | |||
*4. Small lower jaw causes upper lip to overlap lower lip | |||
*5. Joint abnormalities | |||
*6. Heart and kidney abnormalities | |||
*7. Small genitalia (males) | |||
*8. Most have severe mental retardation | |||
*9. Usually mosaic}} | |||
{{hidden|List 5 features of Trisomy 13.| | |||
*1. Cleft lip and/or palate | |||
*2. Low set, misshapen ears | |||
*3. Small eyes | |||
*4. Hemangioma(s) on the face/forehead | |||
*5. Defective lateral differentiation of the brain (some have holoprosencephaly) | |||
*6. Sixth finger on ulnar side of hand | |||
*7. Heart and kidney abnormalities | |||
*8. Cryptorchidism in male; bicornate uterus in females | |||
*9. Severe mental retardation}} | |||
{{hidden|List 5 features of Trisomy 14.| | |||
*1. Normal weight but short length at birth | |||
*2. Narrow deep-set eyes | |||
*3. Short, bulbous nose | |||
*4. Small lower jaw | |||
*5. Low-set, misshapen ears | |||
*6. Heart abnormalities | |||
*7. Severe mental retardation | |||
*8. Usually mosaic }} | |||
{{hidden|List 5 features of Trisomy 18.| | |||
*1. Growth deficiency (prenatal) | |||
*2. Prominent occiput | |||
*3. Small mouth and jaw | |||
*4. Low-set, misshapen ears | |||
*5. Short sternum | |||
*6. Clenched hand | |||
*7. Short big toe, often flexed upward | |||
*8. Rocker-bottom" feet | |||
*9. Small pelvis with limited hip movement | |||
*10. Heart abnormalities | |||
*11. Severe mental retardation}} | |||
{{hidden|List 5 features of Trisomy 21.| | |||
*1. Flat face | |||
*2. Brushfield spots present when eyes are blue | |||
*3. Upslanting eyes | |||
*4. Small ears | |||
*5. Small mouth (with tongue often protruding) | |||
*6. short fingers (especially fifth | |||
*7. Heart abnormalities in some cases | |||
*8. IQ usually 25-50 but occasionally higher}} | |||
{{hidden|What is the most common outcome of a pregnancy when the parent has a balanced translocation?|Misscarriage}} | |||
==Peripheral Blood Culture and Harvest== | ==Peripheral Blood Culture and Harvest== | ||