Difference between revisions of "Cytogenetics Review Questions"
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{{hidden|List the submetacentric chromosomes.|}} | {{hidden|List the submetacentric chromosomes.|}} | ||
{{hidden|List the acrocentric chromosomes.|}} | {{hidden|List the acrocentric chromosomes.|}} | ||
{{hidden|What is Bloom syndrome?|Bloom syndrome is a rare AR genetic disorder with a defect in the BLM gene with a phenotype of short stature, tendency to sunburn, increased risk of malignancy, reduced or absent fertility, and | {{hidden|What is Bloom syndrome?|Bloom syndrome is a rare AR genetic disorder with a defect in the BLM gene with a phenotype of short stature, tendency to sunburn, increased risk of malignancy, reduced or absent fertility, and prone to sister chromatid exchange [[http://ghr.nlm.nih.gov/condition/bloom-syndrome]] }} | ||
{{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 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|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|What is the main difference between constitutional and acquired chromosome anomalies.|1) Constitutional affects the whole patient, acquired usually limited to 1 organ.}} | |||
{{hidden|What at the three main categories of patient features associated with unbalanced constitutional chromosomal anomalies?]1) dysmophy, 2) Visceral malformations, 3) developmental/psychomotor delay.}} | |||
{{hidden|What is meant by a homogeneous chromosomal anomaly?|Homogeneous chromosomal anomalies mean that all the cells STUDIED carry the anomaly, may be constitutional or acquired.}} | |||
{{hidden|What is meant by a mosaic chromosomal anomaly?|Mosaic chromosomal anomalies mean that only some of the cells STUDIED carry the anomaly, may be constitutional or acquired.}} | |||
{{hidden|What are chromosomal polymorphisms?|Chromosomal polymorphisms are variants of chromosomes that are widespread in a particular population which to date are not known to have any effect on the phenotype, they vary in size, position, and staining properties but must occur in heterochromatin regions usually near the centromere.}} | |||
{{hidden|List 3 known chromosomal polymorphisms, according to ISCN 2013.|[[Chromosomal polymorphisms]]}} |
Revision as of 14:12, 21 May 2015
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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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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