Chromosomes

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  • Normal male karyotype
  • Chromosomes

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

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