SFOS 80

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Author:
zf2010
ID:
90533
Filename:
SFOS 80
Updated:
2011-06-13 21:21:54
Tags:
Abnormalities Meiosis
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Description:
SFOS 80
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  1. Describe diploid
    • 46 chromosomes in 23 pairs
    • 2n
  2. Meiosis I
    • Reductional division
    • Diploid --> haploid
  3. Meiosis II
    Equational division
  4. What is purpose of chiasmata formation?
    Recombination of homologous pairs
  5. Describe the meiotic arrests in oocytes
    • Initial arrest at meiosis I at chiasmata/crossing over
    • Completion of meiosis I triggered by surge of LH
    • Arrest at meiosis II - completed at fertilization (second polar body released)
  6. Why is increased female age associated with increased abnormalities?
    • Longer time period egg remains in meiosis I
    • Greater likelihood it will divide unevenly
  7. Features of Trisomy 21
    • Low central tone
    • Short stature
    • Moderate mental retardation
    • Increased chance of cardiac abnormalities, leukemia, Alzheimers
  8. Features of Trisomy 18
    • Profound developmental delay
    • Increased tone
    • Cardiac, brain abnormalities
    • 90% die in first year
  9. Features of Trisomy 3
    • Holoprosencephaly
    • Polydactyly
    • Severe cardiac, brain abnormalities
    • 90% die in first year
  10. Examples of deletion syndromes
    • Cri du chat - 5p segment
    • Wolf-Hirshhorn - 4p segment
    • Miller-dieker
    • Smith-magenis
    • Williams
    • Prader Willi
  11. Turner Syndrome
    • 45, X
    • Short stature, infertility, coarctation of the aorta
  12. Klinefelter Syndrome
    • 47, XXY
    • Azoospermia, tall stature, truncal obesity, small testes

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