Chromosomes
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  • Normal male karyotype

Transcript

  • 1. NORMAL KARYOTYPE
  • 2. What is wrong with this karyotype?
  • 3. Down Syndrome
    • Occurs in 1 of every 800 births
    • Slanting eyes with folds of skin at the inner corners
    • Short neck, small head, small oral cavity (mouth)
    • Smaller, poor muscle tone, hyperflexibility of joints
    • Some degree of mental retardation
  • 4. Turner Syndrome
    • XO female (no “Y” means - not a guy)
    • 1 in every 2000 births
  • 5.
    • Short stature, lack of ovarian development (infertile), and folds of skin on the neck are common.
    • Arms that turn out at the elbow and a low hairline along the back of the neck are also seen.
  • 6. Klinefelter Syndrome
    • Are males because they are XX Y
    • 1 out of every 500-1000 births
  • 7.
    • Often tall, but not always “in proportion”
    • Fail to develop normal secondary sex characteristics
    • Often have learning disabilities
    • Often have gynecomastia
  • 8.
    • Nondisjunction of sex chromosomes
    • - monosomy (XO)
    • - trisomy (XXY, XXX, XYY)
    • Nondisjunction of autosomal chromosomes
    • - only trisomy 21 is usually not fatal
    • - trisomy 13 and trisomy 18 may
    • survive up to a year after birth