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 | {{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 | {{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.}} |
Revision as of 00:53, 29 May 2015
Unit 1
Expand List the three broad categories of clinical indications for chromosomal analysis.
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Expand Which family members should have chromosomal analysis?
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Expand List 5 prenatal indications for cytogenetics analysis.
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Expand What are the indications for chromosomal analysis of products of conception?
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Expand Compare amniocentesis and chorionic villus sampling with regards to gestational age, complication rate, turn around time, and false results
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Expand What are the clinical indications for tissue sampling instead of blood for cytogenetic analysis?
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Expand List 8 standard techniques for cytogenetics analysis.
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Expand List 5 Molecular cytogenetics techniques.
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Expand What is g-banding?
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Expand Outline the general procedure for cytogenetics study.
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Expand Broadly what at the three main morphological groups of chromosomes?
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Expand What are the 4 minimum items included in a standard banding nomenclature?
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Expand What are the clinical indications for an individual to have chromosomal analysis?
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Expand What is q-banding?
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Expand What is R-banding?
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Expand What is C-banding?
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Expand What is NOR?
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Expand List the metacentric chromosomes.
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Expand List the submetacentric chromosomes.
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Expand List the acrocentric chromosomes.
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Expand What is Bloom syndrome?
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Expand What is SCE (Sister chromatid exchange?
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Expand What is DAPI staining?
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Expand Explain how chromosomal breakage studies are used to diagnose Fanconi's anemia.
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Unit 2
Expand Describe the 4 steps of mitosis.
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Expand List the 8 steps of meiosis.
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Expand What is the main difference between constitutional and acquired chromosome anomalies.
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Expand What at the three main categories of patient features associated with unbalanced constitutional chromosomal anomalies?
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Expand What is meant by a homogeneous chromosomal anomaly?
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Expand What is meant by a mosaic chromosomal anomaly?
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Expand What are chromosomal polymorphisms?
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Expand List 3 known chromosomal polymorphisms, according to ISCN 2013.
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Expand Classify numerical abnormalities of chromosomes.
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Expand What are the four main types of abnormalities in chromosome structure?
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Expand What is the key difference between a balanced and an unbalanced chromosomal rearrangement?
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Expand List three types of balanced chromosomal rearrangements.
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Expand List three unbalanced numerical chromosomal rearrangements.
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Expand List 5 structural unbalanced chromosomal rearrangements.
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Expand What is the karyotype for a female infant with cri-du-chat?
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Unit 3
Expand What is FISH?
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Expand When is interphase FISH more helpful than metaphase?
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Expand What is the approximate resolution of cytogenetic FISH?
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Expand What are the three types of FISH probes?
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Expand List 7 applications of FISH technology?
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Expand List 5 microdeletion syndromes.
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Expand Briefly describe Cri-du Chat Syndrome
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Expand Describe 3 mechanisms by which uniparental disomy occurs.
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Expand What is imprinting?
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Expand Which chromosomes are known to have imprinted genes?
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Expand Describe Prader-Willi Syndrome.
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Expand Briefly describe Williams Syndrome.
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Expand Describe DeGeorge Syndrome.
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Expand What is SKY?
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Expand What kinds of chromosomal transformations is SKY used for?
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Expand What are thelimitations of SKY?
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Expand Explain the basic principle of Comparative Genomic Hybridization.
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Expand How do CGH arrays work?
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Unit 4
Expand List 3 solid tumours for which cancer cytogenetics are currently used in prognosis and treatment.
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Expand What is a chromosomal instability syndrome?
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Expand What are the features of ataxia telangiectasia?
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Expand What is Nijmegen Breakage Syndrome?
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Expand What is Bloom syndrome?
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Expand What is Xeroderma pigmentosum?
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Expand What is Fanconi Anemia?
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Expand What is ICF Syndrome?
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Expand What is Roberts Syndrome?
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Expand What karytype is most at risk of gonadoblastoma?
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Expand What cancer are Kleinfelters patients at increased risk of?
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Expand What lymphoproliferative disorders are associated with Down's Syndrome?
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{{hidden|
Miscellaneous
Expand What are the steps in preparing a cytogenetics tissue specimen?
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Expand What is Allerdice or Sandy Point Syndrome?
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Expand What is the most common robertsonian translocation?
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Expand What is the most common non-robertsonian translocation?
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Expand What is a marker chromosome?
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Expand What is the most common chromosomal abnormality in humans?
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Expand What is the most common cause of triploidy?
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Expand What is the recurrence risk for parents of Down's syndrome child with a "free chromosome"?
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Expand List 5 features of Trisomy 8.
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Expand List 5 features of Trisomy 9.
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Expand List 5 features of Trisomy 13.
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Expand List 5 features of Trisomy 14.
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Expand List 5 features of Trisomy 18.
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Expand List 5 features of Trisomy 21.
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Expand What is the most common outcome of a pregnancy when the parent has a balanced translocation?
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