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Understanding Genetic Mutations and Disorders: Nondisjunction Effects and Testing Options

Explore the complex world of genetic mutations and their impact on human health, including lethal outcomes from nondisjunction, such as miscarriages and chromosomal disorders. Learn about survivable conditions like Down Syndrome from Trisomy 21, Turner Syndrome from missing an X chromosome, and Klinefelter’s Syndrome from an extra X chromosome. Discover the role of genetic counseling and the importance of prenatal testing options like karyotyping, ultrasound, amniocentesis, and CVS to assess potential genetic disorders in developing fetuses.

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Understanding Genetic Mutations and Disorders: Nondisjunction Effects and Testing Options

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Presentation Transcript

  1. Mutations & Diseases

  2. LETHAL! Results from non-disjunction Chromosomes do not separate properly Miscarriage Nondisjunction: Missing 1 chromosome

  3. SURVIVABLE! Results from non-disjunction (improper separation of chromosomes during meiosis) 3 copies of chromosome #21  trisomy Results in Down Syndrome Nondisjunction: More than 2 copies of chromosome Karyotype Non-disjunction

  4. Turner Syndrome Missing an X chromosome Born with a webbed neck Sterile Klinefelter’s Syndrome Extra X chromosome Reduced fertility Non-disjunction: Turner Syndrome & Klinefelter’s Syndrome

  5. Other Mutations Original: ABCDEF-GHI

  6. Genetic Counseling • Genetic counselors help people as they consider if they should be tested, when they receive results, and in the months after diagnosis • Help the family cope with a positive result • Arrange prevention and screening measures where they deem it appropriate

  7. Pre-natal Testing for Genetic Disorders: Cont’d • Karyotyping • Lay out chromosomes • Check for correct # • Determine the sex of the baby

  8. Ultrasound Examine anatomical features of the fetus Amniocentesis Needle into amniotic fluid 14-16 weeks Biochemical analysis Enzymes & waste products Pre-natal Testing for Genetic Disorders: Cont’d

  9. Pre-natal Testing for Genetic Disorders: Cont’d • CVS (chorion villus sample) • Examine chromosomes within the chorion

  10. Offspring have similar genetics to parents Family history- list of diseases of previous family members 8-10 weeks Pedigree- genetic chart based on family history Pre-natal Testing for Genetic Disorders

  11. Each row of shapes represents a generation Oldest generation toward top Square=male Circle= female Vertical line & bracket connect parents to their children Horizontal line indicates marriage Unshaded indicates trait is not expressed (aa) Shaded indicates trait is expressed (could be AA or Aa)

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