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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]]}} | |||