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MED 109- BIOLOGY II > 11. CHROMOSOMAL ABNORMALITIES > Flashcards

11. CHROMOSOMAL ABNORMALITIES Flashcards

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1
Q
  1. What do Large Scale Chromosomal Alterations often lead to?
A
  • they often lead to spontaneous abortions and
    miscarriages
  • they can also cause a variety of developmental disorders
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2
Q
  1. What are the two types of Chromosomal Abnormalities?
A
  1. Chromosomal Abnormalities due to the Chromosome
    Number
  2. Chromosomal Abnormalities due to the Chromosome
    Structure
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3
Q
  1. Are most of the genes in our body linked or unlinked?
A
  • most of the genes in our body are unlinked
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4
Q
  1. What are the two types of Chromosomal Conditions caused by Chromosome Number?
A
  1. Aneuploidy
  2. Polyploidy
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5
Q
  1. What is Aneuploidy?
A
  • this is the presence of an abnormal chromosome
    number
  • it is a condition in which the number of chromosomes
    in a cell is NOT the exact multiple of the monoploid
    number of a particular species
  • the cell does not have the correct diploid number of its
    particular species
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6
Q
  1. What causes Aneuploidy?
A
  • it is caused by the nondisjunction of gametes
  • this happened during the fertilisation of the gametes
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7
Q
  1. What happens to the offspring who have aneuploidy?
A
  • they have an abnormal number of a particular
    chromosome
  • this makes their karyotype abnormal
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8
Q
  1. Provide a definition for Nondisjunction.
A
  • this is the abnormal separation of homologous
    chromosome pairs
  • this happens during Meiosis I

IT CAN ALSO HAPPEN DURING MEIOSIS II:
- this would be caused by the abnormal separation of
the sister chromatids

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9
Q
  1. What happens when Nondisjunction of the homologous chromosomes occurs during Meiosis I?
A
  • one gamete will receive both of the homologous
    chromosomes from a pair
  • the other gamete will receive none of the
    chromosomes from a pair
    (0 chromosomes)
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10
Q
  1. What happens when Nondisjunction of the sister chromatids occurs during Meiosis II?
A
  • this is the result of the absence of separation of the
    sister chromatids during Meiosis II
  • this means that half of the gametes will have either 1
    extra chromosome or have 1 less chromosome at the
    end of Meiosis II
  • the other half of the gametes will have the normal
    amount of chromosomes at the end of Meiosis II
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11
Q
  1. What is a Monosomic Zygote?
A
  • this is a zygote that has only 1 copy of a particular
    chromosome
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12
Q
  1. What is a Trisomic Zygote?
A
  • this is a zygote that has 3 copies of a particular
    chromosome
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13
Q
  1. Does this diagram make sense?
A
  • yes
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14
Q
  1. Which kind of Nondisjunction results in more serious effects in the individual?
A
  • Nondisjunction of the Homologous Chromosomes
    during Meiosis I
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15
Q
  1. What is Polyploidy?
A
  • this is a condition in which an organism has more than
    2 complete sets of chromosomes
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16
Q
  1. Provide 2 examples of Polyploidy.
A
  1. TRIPLOIDY (3n):
    • this is three sets of chromosomes
  2. TETRAPLOIDY (4n):
    • this is four sets of chromosomes
17
Q
  1. In which species is Polyploidy common?
A
  • Polyploidy is common in plants
  • it is not common in animals
  • it is more normal in its appearance than Aneuploidy
18
Q
  1. What are the 4 types of Chromosomal Abnormalities caused by alterations to the Chromosome Structure?
A
  1. Deletion
  2. Duplication
  3. Inversion
  4. Translocation

NB:
- all of these are caused by the breaking of the
chromosome

19
Q
  1. What is Deletion?
A
  • this is the removal of a chromosomal segment
20
Q
  1. What is Duplication?
A
  • this is the repetition of a chromosomal segment
21
Q
  1. What is Inversion?
A
  • this is the reversal of the chromosome segment
  • this happens within the chromosome
22
Q
  1. What is Translocation?
A
  • this is the exchange of segments between non-
    homologous chromosomes
  • it is the movement of a segment from one chromosome
    to another
23
Q
  1. Does this image make sense?
A
  • yes

MED 109- BIOLOGY II (90 decks)

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