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Chromosomal Mutations

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Duplication

Duplications produce extra copies of parts of a chromosome.

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Deletion (Chromosomal)

The loss of all or part of a chromosome.

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Inversion

Inversions reverse the direction of parts of chromosomes.

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Karyotype

Karyotype is a picture of the chromosomes arranged in order from largest to smallest.

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Autosomes

  • Autosomes - any chromosome that is not considered a sex determining chromosome.
  • In humans pairs

1-22 are autosomes.

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Sex Chromosomes

  • Sex Chromosomes -

A chromosome involved with determining the sex of an organism.

  • 23 Pair in humans

One of two types

of chromosome - X or Y

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Nondisjunction

Trisomy – extra chromosome

Monosomy – missing chromosome

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Down’s Syndrome

  • asymmetrical or odd-shaped skull
  • slanting eyes
  • small mouth with protruding tongue
  • slowed growth and development
  • delayed mental and social skills

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Sex Chromosome Abnormalities

  • XXY = Klinefelter’s syndrome male
  • XXX = Trisomy X female
  • XYY = Jacob’s syndrome male
  • XO = Turner syndrome female

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Sex Chromosome Abnormalities

  • XXY - sterile male who may have some female body characteristics, and in some cases increased learning hurdles. 
  • XXX - There are no real effects connected with this syndrome. Women with triple X usually are fertile.
  • XO - sterile female with short stature, with low mental ability, failure to undergo puberty (Turner's syndrome).
  • YO - Non-viable; genes on X chromosome required for development and survival

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Klinefelter’s syndrome

  • XXY male
    • one in every 2000 live births
    • have male sex organs, but are sterile
    • feminine characteristics
      • some breast development
      • lack of facial hair
    • tall
    • normal intelligence

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Jacob’s syndrome male

  • XYY Males
    • 1 in 1000 live male �births
    • extra Y chromosome
    • slightly taller than �average
    • more active
    • normal intelligence, slight learning disabilities
    • delayed emotional maturity
    • normal sexual development

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Trisomy X

  • XXX
    • 1 in every 2000 live births
    • produces healthy females
      • Why?
      • Barr bodies
        • all but one X chromosome is inactivated

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Turner syndrome

  • Monosomy X or X0
    • 1 in every 5000 births
    • varied degree of effects
    • webbed neck
    • short stature
    • sterile

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Turner’s syndrome

  • short stature (affects almost all girls with Turner, to different degrees)
  • failure of ovaries to develop (90-95% of girls)
  • webbed neck (25%) or short neck (40%)
  • abnormal fingernails and toenails (70%)
  • hearing disorders (50-90%)
  • frequent ear infections in childhood (75%)