Difference between revisions of "Cytogenetics Review Questions"

{{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}}

{{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|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).}}

{{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.}}

{{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).}}

{{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}}