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Down Syndrome

Down Syndrome. By: Lee, Maria, Amanda, Marisa, and Kelly. Physical Characteristics. Short stocky bodies with thick hands and feet Broad short heads, small ears, slanted eyes Flattened noses Large ridged tongues Low muscle tone, loose joints. Medical Complications. Epilepsy

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Down Syndrome

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  1. Down Syndrome By: Lee, Maria, Amanda, Marisa, and Kelly

  2. Physical Characteristics • Short stocky bodies with thick hands and feet • Broad short heads, small ears, slanted eyes • Flattened noses • Large ridged tongues • Low muscle tone, loose joints

  3. Medical Complications • Epilepsy • Hypothyroidism • Crossed eyes • Cataracts • Hearing impairment • Heart defects • Childhood leukemia is 20% more common • Hernias • Sterility in males • Females are fertile but can pass on DS • Accelerated Aging with high chance of Alzheimer’s disease

  4. Types of Down Syndrome • Trisomy 21 • Mosaic Down Syndrome • Translocation Trisomy 21

  5. Trisomy 21 • Found in 92% of all DS individuals • Caused by nondisjuction in meiosis, causing eggs to have trisomy 21 • Increases in incidence with maternal age, but also found in younger mothers • Children born immediately after DS children have a higher chance of also having DS, however, for other siblings, the risk for having DS does not increase

  6. Nondisjunction

  7. Mosaic DS • 2-4% of the DS population • Starts off with 23 pairs of chromosomes in each cell • Error occurs in an early cell division • During embryonic development, a random cell will acquire trisomy 21, creating 2 individual cell lines (normal and trisomatic) • The earlier the mutation occurs, the more profound the effects

  8. Mosaic DS

  9. Translocation DS • 3-4% of the DS population • A Robertsonian translocation occurs when one chromosome 21 attaches to another chromosome, forming a single new,chromosome • The recipient chromosome is usually chromosome 14 and the combination of the 2 chromosomes is called a fourteen, twenty one translocation • Can also switch with 13, 15, or 22

  10. Translocation DS • About ¼ of Translocation DS is inherited • The parent is then called a translocation carrier • Parent has one normal copy of 21 and one copy of 21 attached to another chromosome • Both copies are then passed on • When fertilization occurs, embryo contains both copies of 21 from the carrier parent, and the normal one copy or 21 from the normal parent • Effects are similar to Trisomy 21 DS

  11. Translocation DS

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