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Difference between revisions of "Cytogenetics Review Questions"
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==Unit 4== | ==Unit 4== | ||
{{hidden|List 3 solid tumours for which cancer cytogenetics are currently used in prognosis and treatment.| | |||
*1. Lymphoma | |||
*2. Breast cancer | |||
*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 are the features of ataxia telangiectasia?| | |||
*1) AR inhertiance 1/40,000, ATM:11q22.3-q23.1 | |||
*2) Cerebellar ataxia | |||
*3) Telangiectasia | |||
*4) Growth retardation | |||
*5) Immunodeficiency | |||
*6) Radiosensitivity *tx with conventional radiation doses, could be fatal | |||
*7) Cytogenetics: Chromosomal breakages, telomere instability, radiation sensitivity t(7;14)}} | |||
{{hidden|What is Nijmegen Breakage Syndrome?|}} | |||
{{hidden|What is Bloom syndrome?|}} | |||
{{hidden|What is Xeroderma pigmentosum?|}} | |||
{{hidden|What is Fanconi Anemia?|}} | |||
{{hidden|What is ICF Syndrome?|}} | |||
{{hidden|What is Roberts Syndrome?|}} | |||
{{hidden|What karytype is most at risk of gonadoblastoma?|}} | |||
{{hidden|What cancer are Kleinfelters patients at increased risk of?|}} | |||
{{hidden|What lymphoproliferative disorders are associated with Down's Syndrome?|}} | |||
{{hidden| | |||
==Miscellaneous== | ==Miscellaneous== | ||
{{hidden|What are the steps in preparing a cytogenetics tissue specimen?| | |||
*1. Specimen received in flow medium and accessioned asap. | |||
*2. Specimen cut-up (+/- treated with collagenase), filtered /18G needle | |||
*3. Seeded into flask | |||
*4. Cultured at 37C 5% CO2 x 48hours | |||
*5. Flask flooded with 2ml of media | |||
*6. Cultured at 37C 5% CO@ x 2-10days | |||
*7. Trypsinize to coverslip when flask growth is confluent | |||
*8. Colcemid added to the coverslip x 30min (1/12 dilution) | |||
*9. Aspirate off colcemid | |||
*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 | |||
{{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.}} | ||
{{hidden|What is the most common robertsonian translocation?|Translocation between the long arms of 13 and 14.}} | {{hidden|What is the most common robertsonian translocation?|Translocation between the long arms of 13 and 14.}} | ||