Difference between revisions of "Cytogenetics Review Questions"
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==Unit 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|List 5 prenatal indications for cytogenetics analysis.|1) Advanced maternal age (>=35yo), 2) Previous pregnancy with chromosomal disorder, 3)one parent is a known carrier (or other relative*), 4)couples at risk of x-linked disorders for which a molecular test is not available, 5) fetal defects on ultrasound, 6)prenatal screen high risk pregnancies, 7) couples with 2+ spontaneous abortions, 8) infertility}} | {{hidden|List 5 prenatal indications for cytogenetics analysis.|1) Advanced maternal age (>=35yo), 2) Previous pregnancy with chromosomal disorder, 3)one parent is a known carrier (or other relative*), 4)couples at risk of x-linked disorders for which a molecular test is not available, 5) fetal defects on ultrasound, 6)prenatal screen high risk pregnancies, 7) couples with 2+ spontaneous abortions, 8) infertility}} | ||
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{{hidden|What are the clinical indications for tissue sampling instead of blood for cytogenetic analysis?|1)Suspicion of chromosomal mosaicism, 2) blood is not available (e.g. POC), 3) surgical or post-mortem tissue.}} | {{hidden|What are the clinical indications for tissue sampling instead of blood for cytogenetic analysis?|1)Suspicion of chromosomal mosaicism, 2) blood is not available (e.g. POC), 3) surgical or post-mortem tissue.}} | ||
{{hidden|List 8 standard techniques for cytogenetics analysis.|1) Geimsa / G-Banding, 2) Quinacrin / Q-banding 3) Reverse / R-banding, 4)Centromere / C-banding, 5)NOR staining (nucleolus organizer regions), 6)DAPI staining, 7) Chromosomal breakage, 8) Sister chromatid Exchange (SCE)}} | {{hidden|List 8 standard techniques for cytogenetics analysis.|1) Geimsa / G-Banding, 2) Quinacrin / Q-banding 3) Reverse / R-banding, 4)Centromere / C-banding, 5)NOR staining (nucleolus organizer regions), 6)DAPI staining, 7) Chromosomal breakage, 8) Sister chromatid Exchange (SCE)}} | ||
{{hidden|List 5 Molecular cytogenetics techniques.|1)FISH (flourescence in situ hybridization), 2) Multi-colour FISH, 3) SKY (spectral karyotyping), 4) CGH (comparative genomic hybridization), 5) CGH array | {{hidden|List 5 Molecular cytogenetics techniques.|1)FISH (flourescence in situ hybridization), 2) Multi-colour FISH, 3) SKY (spectral karyotyping), 4) CGH (comparative genomic hybridization), 5) CGH array}} | ||
{{hidden|What is g-banding?|Chromosomes are treated with trypsine and then stained with Geimsa (or wrights) which darkly stains the AT rich regions (heterochromatin), and lightly stains the GC rich regions of the chromosome.}} | {{hidden|What is g-banding?|Chromosomes are treated with trypsine and then stained with Geimsa (or wrights) which darkly stains the AT rich regions (heterochromatin), and lightly stains the GC rich regions of the chromosome.}} | ||
{{hidden|Outline the general procedure for cytogenetics study.|1) cell culture at 37C 5%CO2 in medium (dividing and stimulation), 2) Chromosome elongation Thymidine BrdU, 3) Metaphase arrest with Colcemide, 4) Cell swelling with hypotonic KCl,* Hardening with acetic acid* 5) Fixation with Cournay's (Methanol: Acetic acid, 3:1), 6) Slide making (chromosome spread with ideal temperature and humidity), 7) Slide aging (air dry slide warmer), 8)Staining (G, Q, C, R-banding), 8) Molecular cytogenetic technique (FISH, multi-FISH, CGH, SKY, array CGH).}} | {{hidden|Outline the general procedure for cytogenetics study.|1) cell culture at 37C 5%CO2 in medium (dividing and stimulation), 2) Chromosome elongation Thymidine BrdU, 3) Metaphase arrest with Colcemide, 4) Cell swelling with hypotonic KCl,* Hardening with acetic acid* 5) Fixation with Cournay's (Methanol: Acetic acid, 3:1), 6) Slide making (chromosome spread with ideal temperature and humidity), 7) Slide aging (air dry slide warmer), 8)Staining (G, Q, C, R-banding), 8) Molecular cytogenetic technique (FISH, multi-FISH, CGH, SKY, array CGH).}} | ||
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{{hidden|What is DAPI staining?|DAPI staining produces bright flourescence 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 flourescence 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 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.}} | ||
==Unit 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.|Meiosis 1(Prophase 1, Metaphase 1, Anaphase 1, Telophase 1), Meiosis 2( Prophase 2, Metaphase 2, Anaphase 2, Telophase 2).}} | {{hidden|List the 8 steps of meiosis.|Meiosis 1(Prophase 1, Metaphase 1, Anaphase 1, Telophase 1), Meiosis 2( Prophase 2, Metaphase 2, Anaphase 2, Telophase 2).}} | ||
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{{hidden|List three unbalanced numerical chromosomal rearrangements.|trisomy, monosomy, multiploidy}} | {{hidden|List three unbalanced numerical chromosomal rearrangements.|trisomy, monosomy, multiploidy}} | ||
{{hidden|List 5 structural unbalanced chromosomal rearrangements.|deletion, duplication, derivative chromsome, recombination chromosome, marker chromosome, ring chromosome, Dm & HSR}} | {{hidden|List 5 structural unbalanced chromosomal rearrangements.|deletion, duplication, derivative chromsome, recombination chromosome, marker chromosome, ring chromosome, Dm & HSR}} | ||
{{hidden| | {{hidden|What is the karyotype for a female infant with cri-du-chat?|46,XX,del(5)(p15.1)}} | ||
==Unit 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|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|What is the approximate resolution of cytogenetic FISH?|3-5Mb}} | |||
{{hidden|What are the three types of FISH probes?|1)Probes for repetative sequences (Centromeres, telomeric sequences), 2) Unique sequence probes hybridized to a single copy of DNA sequences in a specific gene or chromosome, 3) Whole chromosome paints (or arms) which are cocktails of probes that are chromosome specific and cover the entire length.}} | |||
{{hidden|List 7 applications of FISH technology?| 1) Microdeletion syndromes, 2) Characterization of chromosomal structural abnormalities, 3) identification of marker chromosomes, 4) Aneuploidy detection, 5) Cancer cytogenetics, 6) Gene mapping, 7)Rapid detection of sex chromosomes and the SRY gene}} | |||
{{hidden|List 5 microdeletion syndromes.|[[List of Microdeletion Syndromes]]}} |
Revision as of 16:14, 22 May 2015
Unit 1
Expand List the three broad categories of clinical indications for chromosomal analysis.
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Expand List 5 prenatal indications for cytogenetics analysis.
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Expand Which family members should have chromosomal 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?]1) dysmophy, 2) Visceral malformations, 3) developmental/psychomotor delay.
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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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