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24 Cards in this Set
- Front
- Back
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Down Syndrome
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Trisomy 21: caused by the duplication of all or part of chromosome 21
variable degrees of mental retardation, characteristic facial features, some retardation of growth and development including: heart defects and leukemia |
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Chromosome mutations
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Difference form the wild type in the number or structure of one or more chromosomes
Causes phenotypic effects due to the affects on the genes |
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Metacentric Chromosome
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The two chromosome arms are the exact same length
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Submetacentric Chromosome
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Chromosome in which the centromere is displaced toward one end, producing a short arm and a long arm
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Acrocentric Chromosome
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Chromosome in which the centromere is near one end, producing a long arm at one end and a knob, at the other end
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Telocentric Chromosome
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Chromosome in which the centromere is at or very near one end
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Karyotype
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Picture of an individuals organism's complete set of metaphase chromosomes
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Giemsa
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-special dye used to stain chromosomes to distinguish chromosomes of similar size and shape
-reveals G bands |
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G bands
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distinguish areas of DNA with are rich in adenine-thymine base pairs (A-T)
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Q bands
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-revealed by staining chromosomes with quinacrine mustard, and viewing them under ultra-violet light
-variation in the brightness lets us know the differences in the amounts of cytosine-guanine and adenine-thymine |
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C bands
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Regions occupied by centromeric heterochromatin
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R bands
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rich in cytosine-guanine base pairs (C-G)
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Tandem duplication
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the duplicated region is immediately adjacent to the original segment
Ex: AB-CDEFefG |
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Segmental duplication
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duplications greater than 1000 bp in length.
Both copies found.. 1. on the same chromosome 2. or on different chromosome |
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Chromosome deletion
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loss of a chromosome segment
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Paracentric Inversion
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Chromosome inversion that does not include the centromere in the inverted region
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Pericentric Inversion
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Chromosome inversion that includes the centromere in the inverted region
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Position Effect
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Dependence of the expression of a gene on the gene's location in the genome
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Translocation
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Movement of a chromosome segment to a nonhomologous chromosome or to a region within the same chromosome.
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Aneuploidy
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Change from the wild type in the number of chromosomes most often an increase or decrease of one or two chromosomes
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Mosaicism
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condition in which regions of tissue within a single individual have different chromosome constitutions
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Monosomy
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absence of one of the chromosomes of a homologous pair
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Polyploidy
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Possession of more than two haploid sets of chromosome
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Trisomy
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Presence of an additional copy of a chromosome (2n +1)
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