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Down Syndrome ( trisomy 21)

Down Syndrome ( trisomy 21). result of an extra chromosome 21 1:700 children characteristic facial features, short stature; heart defects, shorter lifespan… etc. has been correlated to the age of the mother but can also be result of nondisjunction of father’s chromosome 21. Down Syndrome.

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Down Syndrome ( trisomy 21)

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  1. Down Syndrome (trisomy 21) • result of an extra chromosome 21 • 1:700 children • characteristic facial features, short stature; heart defects, shorter lifespan… etc. • has been correlated to the age of the mother but can also be result of nondisjunction of father’s chromosome 21

  2. Down Syndrome

  3. Patau Syndrome (trisomy 13) • serious eye, brain, circulatory defects as well as cleft palate • 1:5000 • children rarely live more than a few months

  4. Klinefelter syndrome: XXY • 47 chromosomes • affects the sexual/gender specific characteristics • Usually male sex organs with other female body characteristics • Normal intelligence

  5. Jacob’s Syndrome • XYY males • individuals taller than average, often with below normal intelligence

  6. Trisomy X • XXX metafemales • 1:1000 live births • healthy and fertile • usually cannot be distinguished from normal female except by karyotype

  7. Monosomy X – Turner’s Syndrome • Only one sex chromosome – X • 1:5000 • Only monosomy that will produce viable offspring in humans • Only have 45 chromosomes • Do not mature sexually during puberty and are sterile (cannot reproduce) • Short stature and normal intelligence • 98% of these fetuses die

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